CleftGeneDB-Search

Gene: SUFU

Basic information

Tag	Content
Uniprot ID	Q9UMX1; Q7LCP7; Q9NT90; Q9NZ07; Q9UHK2; Q9UHM8; Q9UMY0;
Entrez ID	51684
Genbank protein ID	AAF23893.1; CAB70752.1; AAD51655.1; AAF35866.1; AAF23890.1; AAQ88914.1; AAD50501.1; AAH13291.1; AAM08947.1;
Genbank nucleotide ID	NM_001178133.1; NM_016169.3;
Ensembl protein ID	ENSP00000358915; ENSP00000358918; ENSP00000411597;
Ensembl nucleotide ID	ENSG00000107882
Gene name	Suppressor of fused homolog
Gene symbol	SUFU
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Negative regulator in the hedgehog/smoothened signaling pathway (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:12068298, PubMed:12975309, PubMed:27234298, PubMed:15367681, PubMed:22365972, PubMed:24217340, PubMed:24311597, PubMed:28965847). Down-regulates GLI1-mediated transactivation of target genes (PubMed:15367681, PubMed:24217340, PubMed:24311597). Down-regulates GLI2-mediated transactivation of target genes (PubMed:24311597, PubMed:24217340). Part of a corepressor complex that acts on DNA-bound GLI1. May also act by linking GLI1 to BTRC and thereby targeting GLI1 to degradation by the proteasome (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:24217340). Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this effect is overcome by binding of STK36 to both SUFU and a GLI protein (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:24217340). Negative regulator of beta-catenin signaling (By similarity). Regulates the formation of either the repressor form (GLI3R) or the activator form (GLI3A) of the full-length form of GLI3 (GLI3FL) (PubMed:24311597, PubMed:28965847). GLI3FL is complexed with SUFU in the cytoplasm and is maintained in a neutral state (PubMed:24311597, PubMed:28965847). Without the Hh signal, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of GLI3FL into GLI3R (PubMed:24311597, PubMed:28965847). When Hh signaling is initiated, SUFU dissociates from GLI3FL and the latter translocates to the nucleus, where it is phosphorylated, destabilized, and converted to a transcriptional activator (GLI3A) (PubMed:24311597, PubMed:28965847). Required for normal embryonic development (By similarity). Required for the proper formation of hair follicles and the control of epidermal differentiation (By similarity).
Sequence	MAELRPSGAP GPTAPPAPGP TAPPAFASLF PPGLHAIYGE CRRLYPDQPN PLQVTAIVKY 60 WLGGPDPLDY VSMYRNVGSP SANIPEHWHY ISFGLSDLYG DNRVHEFTGT DGPSGFGFEL 120 TFRLKRETGE SAPPTWPAEL MQGLARYVFQ SENTFCSGDH VSWHSPLDNS ESRIQHMLLT 180 EDPQMQPVQT PFGVVTFLQI VGVCTEELHS AQQWNGQGIL ELLRTVPIAG GPWLITDMRR 240 GETIFEIDPH LQERVDKGIE TDGSNLSGVS AKCAWDDLSR PPEDDEDSRS ICIGTQPRRL 300 SGKDTEQIRE TLRRGLEINS KPVLPPINPQ RQNGLAHDRA PSRKDSLESD SSTAIIPHEL 360 IRTRQLESVH LKFNQESGAL IPLCLRGRLL HGRHFTYKSI TGDMAITFVS TGVEGAFATE 420 EHPYAAHGPW LQILLTEEFV EKMLEDLEDL TSPEEFKLPK EYSWPEKKLK VSILPDVVFD 480 SPLH 484

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
1M1L
4BL8
4BL9
4BLA
4BLB
4BLD
4KM8
4KM9
4KMD
4KMH
4BL9
4BLB
4KM8

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	SUFU	608531	E2RAI7		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	SUFU	102181468	A0A452FM19		Capra hircus	Prediction	More>>
1:1 ortholog	SUFU	51684	Q9UMX1		Homo sapiens	Prediction	More>>
1:1 ortholog	Sufu	24069	Q9Z0P7	CPO	Mus musculus	Publication	More>>
1:1 ortholog	SUFU	450699	A0A2I3RQE6		Pan troglodytes	Prediction	More>>
1:1 ortholog	SUFU	100345361	U3KN20		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Sufu	361769	Q4V8C6		Rattus norvegicus	Prediction	More>>
1:1 ortholog	sufu	100001615	A9JRW8		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs757097388	p.Glu3Gly	missense variant	-	NC_000010.11:g.102504160A>G	ExAC,gnomAD
rs1297525468	p.Leu4Arg	missense variant	-	NC_000010.11:g.102504163T>G	TOPMed
rs948353979	p.Arg5Trp	missense variant	-	NC_000010.11:g.102504165C>T	TOPMed,gnomAD
rs1449152687	p.Ser7Asn	missense variant	-	NC_000010.11:g.102504172G>A	gnomAD
rs769696737	p.Gly8Ser	missense variant	-	NC_000010.11:g.102504174G>A	ExAC
rs775491374	p.Ala9Asp	missense variant	-	NC_000010.11:g.102504178C>A	ExAC,gnomAD
rs1457645233	p.Ala9Thr	missense variant	-	NC_000010.11:g.102504177G>A	TOPMed
rs775491374	p.Ala9Val	missense variant	-	NC_000010.11:g.102504178C>T	ExAC,gnomAD
RCV000628510	p.Ala9Val	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102504178C>T	ClinVar
rs1227379293	p.Gly11Ala	missense variant	-	NC_000010.11:g.102504184G>C	gnomAD
rs1322807658	p.Gly11Ser	missense variant	-	NC_000010.11:g.102504183G>A	gnomAD
rs1227379293	p.Gly11Asp	missense variant	-	NC_000010.11:g.102504184G>A	gnomAD
rs1322807658	p.Gly11Arg	missense variant	-	NC_000010.11:g.102504183G>C	gnomAD
RCV000707040	p.Gly11Asp	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102504184G>A	ClinVar
rs768935165	p.Thr13Ile	missense variant	-	NC_000010.11:g.102504190C>T	ExAC,TOPMed,gnomAD
rs1456048322	p.Thr13Pro	missense variant	-	NC_000010.11:g.102504189A>C	TOPMed,gnomAD
rs768935165	p.Thr13Ser	missense variant	-	NC_000010.11:g.102504190C>G	ExAC,TOPMed,gnomAD
rs1460606381	p.Ala14Pro	missense variant	-	NC_000010.11:g.102504192G>C	gnomAD
rs28942088	p.Pro15Leu	missense variant	-	NC_000010.11:g.102504196C>T	UniProt,dbSNP
VAR_021566	p.Pro15Leu	missense variant	-	NC_000010.11:g.102504196C>T	UniProt
rs28942088	p.Pro15Leu	missense variant	Medulloblastoma (mdb)	NC_000010.11:g.102504196C>T	-
RCV000535620	p.Pro15Thr	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102504195C>A	ClinVar
rs761921681	p.Pro15Thr	missense variant	-	NC_000010.11:g.102504195C>A	ExAC,TOPMed,gnomAD
RCV000003750	p.Pro15Leu	missense variant	Medulloblastoma (MDB)	NC_000010.11:g.102504196C>T	ClinVar
rs978312925	p.Pro16Thr	missense variant	-	NC_000010.11:g.102504198C>A	gnomAD
rs12780580	p.Ala17Asp	missense variant	-	NC_000010.11:g.102504202C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs12780580	p.Ala17Val	missense variant	-	NC_000010.11:g.102504202C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1332143456	p.Ala17Pro	missense variant	-	NC_000010.11:g.102504201G>C	gnomAD
RCV000475558	p.Ala17Val	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102504202C>T	ClinVar
rs1489443369	p.Pro18Arg	missense variant	-	NC_000010.11:g.102504205C>G	TOPMed
rs1207697890	p.Gly19Ser	missense variant	-	NC_000010.11:g.102504207G>A	TOPMed
RCV000628509	p.Gly19Ser	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102504207G>A	ClinVar
VAR_080418	p.Gly19Val	Missense	-	-	UniProt
rs936379170	p.Pro20Ala	missense variant	-	NC_000010.11:g.102504210C>G	gnomAD
rs936379170	p.Pro20Ser	missense variant	-	NC_000010.11:g.102504210C>T	gnomAD
rs761240106	p.Ala22Val	missense variant	-	NC_000010.11:g.102504217C>T	ExAC,TOPMed,gnomAD
rs761240106	p.Ala22Gly	missense variant	-	NC_000010.11:g.102504217C>G	ExAC,TOPMed,gnomAD
RCV000474319	p.Ala22Gly	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102504217C>G	ClinVar
rs766666529	p.Pro23Ala	missense variant	-	NC_000010.11:g.102504219C>G	ExAC,TOPMed,gnomAD
rs766666529	p.Pro23Ser	missense variant	-	NC_000010.11:g.102504219C>T	ExAC,TOPMed,gnomAD
RCV000574522	p.Pro23Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102504219C>T	ClinVar
RCV000821320	p.Pro23Ser	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102504219C>T	ClinVar
rs1219870817	p.Pro24Thr	missense variant	-	NC_000010.11:g.102504222C>A	gnomAD
rs754218597	p.Pro24Leu	missense variant	-	NC_000010.11:g.102504223C>T	ExAC,gnomAD
RCV000003755	p.Pro24Ter	frameshift	Medulloblastoma with extensive nodularity (MBEN)	NC_000010.11:g.102504223del	ClinVar
NCI-TCGA novel	p.Pro24SerPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.102504219_102504225CCCCCGG>-	NCI-TCGA
rs758001170	p.Ser28Leu	missense variant	-	NC_000010.11:g.102504235C>T	ExAC,TOPMed,gnomAD
RCV000628504	p.Pro31Ala	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102504243C>G	ClinVar
rs1554840836	p.Pro31Ala	missense variant	-	NC_000010.11:g.102504243C>G	-
rs1391787041	p.Gly33Ala	missense variant	-	NC_000010.11:g.102504250G>C	TOPMed
RCV000228401	p.Ala36Val	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102504259C>T	ClinVar
rs566714720	p.Ala36Val	missense variant	-	NC_000010.11:g.102504259C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs745793517	p.Ile37Val	missense variant	-	NC_000010.11:g.102504261A>G	UniProt,dbSNP
VAR_080419	p.Ile37Val	missense variant	-	NC_000010.11:g.102504261A>G	UniProt
rs745793517	p.Ile37Val	missense variant	-	NC_000010.11:g.102504261A>G	ExAC,TOPMed,gnomAD
rs1171424714	p.Tyr38Ter	stop gained	-	NC_000010.11:g.102504266C>A	gnomAD
RCV000200021	p.Tyr38Ter	frameshift	Medulloblastoma (MDB)	NC_000010.11:g.102504263del	ClinVar
rs756123785	p.Gly39Glu	missense variant	-	NC_000010.11:g.102504268G>A	ExAC,gnomAD
rs756123785	p.Gly39Val	missense variant	-	NC_000010.11:g.102504268G>T	ExAC,gnomAD
NCI-TCGA novel	p.Cys41Tyr	missense variant	-	NC_000010.11:g.102504274G>A	NCI-TCGA
rs749116979	p.Arg43Cys	missense variant	-	NC_000010.11:g.102504279C>T	ExAC,gnomAD
rs768375628	p.Leu44Pro	missense variant	-	NC_000010.11:g.102504283T>C	ExAC,gnomAD
rs774611157	p.Tyr45Ser	missense variant	-	NC_000010.11:g.102504286A>C	ExAC
rs748377573	p.Pro46Ser	missense variant	-	NC_000010.11:g.102504288C>T	ExAC,gnomAD
rs772190051	p.Asp47Ala	missense variant	-	NC_000010.11:g.102504292A>C	ExAC,gnomAD
rs1479128337	p.Pro49Leu	missense variant	-	NC_000010.11:g.102504298C>T	TOPMed
rs1280289741	p.Leu52Ile	missense variant	-	NC_000010.11:g.102504306C>A	gnomAD
rs200061483	p.Ala56Ser	missense variant	-	NC_000010.11:g.102504318G>T	TOPMed
RCV000573039	p.Ile57Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102504321A>G	ClinVar
RCV000232777	p.Ile57Val	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102504321A>G	ClinVar
rs377614167	p.Ile57Val	missense variant	-	NC_000010.11:g.102504321A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761115669	p.Ile57Thr	missense variant	-	NC_000010.11:g.102504322T>C	ExAC,gnomAD
RCV000691076	p.Ile57Met	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102504323C>G	ClinVar
rs766897671	p.Val58Leu	missense variant	-	NC_000010.11:g.102504324G>C	ExAC,gnomAD
RCV000463016	p.Val58Ter	frameshift	Gorlin syndrome (BCNS)	NC_000010.11:g.102504323dup	ClinVar
RCV000705859	p.Lys59Ter	nonsense	Gorlin syndrome (BCNS)	NC_000010.11:g.102504327A>T	ClinVar
rs753820791	p.Gly63Asp	missense variant	-	NC_000010.11:g.102509174G>A	ExAC,gnomAD
COSM4011291	p.Gly64Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102509177G>T	NCI-TCGA Cosmic
COSM4915436	p.Pro65Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102509180C>A	NCI-TCGA Cosmic
RCV000686796	p.Pro67Arg	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102509186C>G	ClinVar
COSM4924124	p.Ser72Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102509200A>T	NCI-TCGA Cosmic
rs1183694060	p.Met73Leu	missense variant	-	NC_000010.11:g.102509203A>C	TOPMed
COSM277525	p.Tyr74His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102509206T>C	NCI-TCGA Cosmic
COSM4011292	p.Tyr74Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102509207A>G	NCI-TCGA Cosmic
RCV000628508	p.Arg75Ser	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102509211G>T	ClinVar
rs141532626	p.Arg75Ser	missense variant	-	NC_000010.11:g.102509211G>T	ESP,ExAC,TOPMed
rs1290561880	p.Arg75Lys	missense variant	-	NC_000010.11:g.102509210G>A	gnomAD
VAR_080420	p.Val77Met	Missense	-	-	UniProt
rs994476275	p.Asn83Lys	missense variant	-	NC_000010.11:g.102509235C>A	TOPMed,gnomAD
rs1187640052	p.Pro85Ser	missense variant	-	NC_000010.11:g.102509239C>T	TOPMed
rs777936677	p.Pro85Leu	missense variant	-	NC_000010.11:g.102509240C>T	ExAC,gnomAD
rs770989077	p.Glu86Lys	missense variant	-	NC_000010.11:g.102509242G>A	ExAC,TOPMed,gnomAD
rs781318691	p.Ile91Asn	missense variant	-	NC_000010.11:g.102509258T>A	ExAC,gnomAD
rs746322193	p.Ser92Thr	missense variant	-	NC_000010.11:g.102509261G>C	ExAC,TOPMed,gnomAD
rs1060501106	p.Ser92Arg	missense variant	-	NC_000010.11:g.102509262C>G	-
RCV000763640	p.Ser92Thr	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102509261G>C	ClinVar
RCV000476504	p.Ser92Thr	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102509261G>C	ClinVar
RCV000464862	p.Ser92Arg	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102509262C>G	ClinVar
RCV000706452	p.Tyr99Cys	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102509282A>G	ClinVar
rs1464640869	p.Tyr99Cys	missense variant	-	NC_000010.11:g.102509282A>G	gnomAD
RCV000699395	p.Asn102Asp	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102509290A>G	ClinVar
rs146181245	p.Asn102Ser	missense variant	-	NC_000010.11:g.102509291A>G	ExAC,TOPMed
rs1040654062	p.Glu106Lys	missense variant	-	NC_000010.11:g.102509302G>A	TOPMed,gnomAD
rs1188593672	p.Glu106Asp	missense variant	-	NC_000010.11:g.102549970G>T	TOPMed,gnomAD
rs1425171528	p.Thr108Ala	missense variant	-	NC_000010.11:g.102549974A>G	TOPMed,gnomAD
rs192025919	p.Gly109Arg	missense variant	-	NC_000010.11:g.102549977G>A	1000Genomes,ExAC,gnomAD
rs1171604398	p.Thr110Arg	missense variant	-	NC_000010.11:g.102549981C>G	TOPMed,gnomAD
rs1171604398	p.Thr110Ile	missense variant	-	NC_000010.11:g.102549981C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Asp111GlyPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.102549983_102549984insGGAGATTTTCAGCAGTGTTGCCTCA	NCI-TCGA
NCI-TCGA novel	p.Asp111ArgPheSerTerUnk	frameshift	-	NC_000010.11:g.102549981_102549982insA	NCI-TCGA
rs1417049698	p.Pro113Ser	missense variant	-	NC_000010.11:g.102549989C>T	gnomAD
rs781192849	p.Ser114Asn	missense variant	-	NC_000010.11:g.102549993G>A	ExAC,gnomAD
RCV000474581	p.Ser114Ter	frameshift	Gorlin syndrome (BCNS)	NC_000010.11:g.102549993del	ClinVar
RCV000702485	p.Gly117Ala	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102550002G>C	ClinVar
rs1415947980	p.Leu120Val	missense variant	-	NC_000010.11:g.102550010T>G	gnomAD
RCV000697224	p.Phe122Leu	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102550018T>G	ClinVar
RCV000030790	p.Arg123Cys	missense variant	Meningioma, familial	NC_000010.11:g.102550019C>T	ClinVar
rs202247756	p.Arg123Cys	missense variant	-	NC_000010.11:g.102550019C>T	-
rs202247756	p.Arg123Cys	missense variant	-	NC_000010.11:g.102550019C>T	NCI-TCGA,NCI-TCGA Cosmic
rs745958724	p.Arg123His	missense variant	-	NC_000010.11:g.102550020G>A	ExAC,TOPMed,gnomAD
rs1278721542	p.Lys125Arg	missense variant	-	NC_000010.11:g.102550026A>G	TOPMed
rs184867271	p.Lys125Asn	missense variant	-	NC_000010.11:g.102550027G>T	1000Genomes,ExAC,gnomAD
rs1280071055	p.Glu127Lys	missense variant	-	NC_000010.11:g.102550031G>A	gnomAD
RCV000628507	p.Glu127Lys	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102550031G>A	ClinVar
rs749864416	p.Thr128Asn	missense variant	-	NC_000010.11:g.102550035C>A	ExAC,gnomAD
rs199626362	p.Ser131Cys	missense variant	-	NC_000010.11:g.102550044C>G	1000Genomes,ExAC,gnomAD
COSM1470312	p.Ala132Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102550047C>G	NCI-TCGA Cosmic
rs1220361404	p.Pro134Leu	missense variant	-	NC_000010.11:g.102550053C>T	TOPMed
rs1347417323	p.Thr135Ile	missense variant	-	NC_000010.11:g.102550056C>T	gnomAD
rs774859476	p.Thr135Ser	missense variant	-	NC_000010.11:g.102550055A>T	ExAC,gnomAD
RCV000700815	p.Pro137Ser	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102550061C>T	ClinVar
rs1564676427	p.Pro137Ser	missense variant	-	NC_000010.11:g.102550061C>T	NCI-TCGA Cosmic
RCV000561880	p.Ala138Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102550064G>A	ClinVar
rs34406289	p.Ala138Ser	missense variant	-	NC_000010.11:g.102550064G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs34406289	p.Ala138Thr	missense variant	-	NC_000010.11:g.102550064G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1060501111	p.Leu140Phe	missense variant	-	NC_000010.11:g.102550072A>T	-
RCV000476561	p.Leu140Phe	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102550072A>T	ClinVar
NCI-TCGA novel	p.Leu144Val	missense variant	-	NC_000010.11:g.102550082T>G	NCI-TCGA
COSM914239	p.Ala145Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102550085G>A	NCI-TCGA Cosmic
rs764847917	p.Arg146Gln	missense variant	-	NC_000010.11:g.102550089G>A	ExAC,gnomAD
rs1060501109	p.Arg146Ter	stop gained	-	NC_000010.11:g.102550088C>T	TOPMed,gnomAD
RCV000460887	p.Arg146Ter	nonsense	Gorlin syndrome (BCNS)	NC_000010.11:g.102550088C>T	ClinVar
RCV000519054	p.Arg146Ter	nonsense	-	NC_000010.11:g.102550088C>T	ClinVar
NCI-TCGA novel	p.Arg146Leu	missense variant	-	NC_000010.11:g.102550089G>T	NCI-TCGA
rs763813479	p.Val148Leu	missense variant	-	NC_000010.11:g.102550094G>C	ExAC,gnomAD
rs763813479	p.Val148Met	missense variant	-	NC_000010.11:g.102550094G>A	ExAC,gnomAD
rs763813479	p.Val148Met	missense variant	-	NC_000010.11:g.102550094G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1554852266	p.Cys156Arg	missense variant	-	NC_000010.11:g.102592593T>C	-
RCV000576033	p.Cys156Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102592593T>C	ClinVar
rs1345244778	p.Trp163Arg	missense variant	-	NC_000010.11:g.102592614T>C	TOPMed
NCI-TCGA novel	p.Trp163Ter	stop gained	-	NC_000010.11:g.102592616G>A	NCI-TCGA
rs368270585	p.Ser165Gly	missense variant	-	NC_000010.11:g.102592620A>G	ESP,TOPMed
NCI-TCGA novel	p.Ser165Ile	missense variant	-	NC_000010.11:g.102592621G>T	NCI-TCGA
RCV000226982	p.Asn169Ser	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102592633A>G	ClinVar
rs142672533	p.Asn169Ser	missense variant	-	NC_000010.11:g.102592633A>G	ESP,ExAC,TOPMed,gnomAD
rs1357846729	p.Ser170Thr	missense variant	-	NC_000010.11:g.102592636G>C	gnomAD
RCV000122094	p.Arg173Lys	missense variant	-	NC_000010.11:g.102592645G>A	ClinVar
rs587778697	p.Arg173Ile	missense variant	-	NC_000010.11:g.102592645G>T	gnomAD
rs779528026	p.Arg173Gly	missense variant	-	NC_000010.11:g.102592644A>G	ExAC,gnomAD
rs587778697	p.Arg173Lys	missense variant	-	NC_000010.11:g.102592645G>A	gnomAD
rs1240758970	p.Arg173Ser	missense variant	-	NC_000010.11:g.102592646A>C	gnomAD
RCV000515250	p.His176Arg	missense variant	JOUBERT SYNDROME 32 (JBTS32)	NC_000010.11:g.102592654A>G	ClinVar
rs1554852272	p.His176Arg	missense variant	Joubert syndrome 32 (JBTS32)	NC_000010.11:g.102592654A>G	UniProt,dbSNP
VAR_080421	p.His176Arg	missense variant	Joubert syndrome 32 (JBTS32)	NC_000010.11:g.102592654A>G	UniProt
rs1554852272	p.His176Arg	missense variant	-	NC_000010.11:g.102592654A>G	-
RCV000548377	p.Met177Val	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102592656A>G	ClinVar
rs758672583	p.Met177Val	missense variant	-	NC_000010.11:g.102592656A>G	ExAC,TOPMed,gnomAD
rs1423074548	p.Pro183Ser	missense variant	-	NC_000010.11:g.102592674C>T	gnomAD
rs745449378	p.Pro187Thr	missense variant	-	NC_000010.11:g.102592686C>A	ExAC,gnomAD
rs1462013962	p.Val188Met	missense variant	-	NC_000010.11:g.102592689G>A	gnomAD
NCI-TCGA novel	p.Gln189Ter	stop gained	-	NC_000010.11:g.102592692C>T	NCI-TCGA
rs1398294691	p.Val194Ile	missense variant	-	NC_000010.11:g.102592707G>A	gnomAD
RCV000529064	p.Thr196Ter	frameshift	Gorlin syndrome (BCNS)	NC_000010.11:g.102592712_102592713dup	ClinVar
rs1394722312	p.Leu198Arg	missense variant	-	NC_000010.11:g.102592720T>G	gnomAD
rs1008594155	p.Leu198Val	missense variant	-	NC_000010.11:g.102592719C>G	TOPMed,gnomAD
rs778399044	p.Ile200Val	missense variant	-	NC_000010.11:g.102593636A>G	ExAC,gnomAD
rs772840788	p.Val201Ala	missense variant	-	NC_000010.11:g.102593640T>C	ExAC,TOPMed,gnomAD
rs147695965	p.Val201Ile	missense variant	-	NC_000010.11:g.102593639G>A	ESP,ExAC,TOPMed,gnomAD
rs1215780897	p.Gly202Val	missense variant	-	NC_000010.11:g.102593643G>T	gnomAD
NCI-TCGA novel	p.Gly202Ser	missense variant	-	NC_000010.11:g.102593642G>A	NCI-TCGA
rs760484608	p.Val203Ile	missense variant	-	NC_000010.11:g.102593645G>A	ExAC,gnomAD
rs1478836560	p.Thr205Ile	missense variant	-	NC_000010.11:g.102593652C>T	gnomAD
COSM3985390	p.Leu208Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102593660C>A	NCI-TCGA Cosmic
rs770678862	p.His209Tyr	missense variant	-	NC_000010.11:g.102593663C>T	ExAC,gnomAD
COSM3367871	p.Gln212Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.102593672C>T	NCI-TCGA Cosmic
rs907135467	p.Gln213Glu	missense variant	-	NC_000010.11:g.102593675C>G	TOPMed,gnomAD
rs1178631893	p.Asn215Ser	missense variant	-	NC_000010.11:g.102593682A>G	gnomAD
rs759900608	p.Glu221Asp	missense variant	-	NC_000010.11:g.102593701G>T	ExAC,TOPMed,gnomAD
rs765345575	p.Leu222Val	missense variant	-	NC_000010.11:g.102593702C>G	ExAC,gnomAD
RCV000548813	p.Arg224Gln	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102593709G>A	ClinVar
rs199673680	p.Arg224Gln	missense variant	-	NC_000010.11:g.102593709G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Arg224Trp	missense variant	-	NC_000010.11:g.102593708C>T	NCI-TCGA
rs1432427138	p.Thr225Arg	missense variant	-	NC_000010.11:g.102593712C>G	TOPMed
rs895181370	p.Val226Ala	missense variant	-	NC_000010.11:g.102593715T>C	TOPMed
RCV000628515	p.Ile228Val	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102593720A>G	ClinVar
rs555976050	p.Ile228Val	missense variant	-	NC_000010.11:g.102593720A>G	1000Genomes,TOPMed,gnomAD
RCV000701992	p.Gly231Ser	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102594000G>A	ClinVar
rs1457485957	p.Gly231Ser	missense variant	-	NC_000010.11:g.102594000G>A	gnomAD
RCV000554665	p.Pro232Leu	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102594004C>T	ClinVar
rs1240436102	p.Pro232Leu	missense variant	-	NC_000010.11:g.102594004C>T	gnomAD
rs1060501110	p.Pro232Ser	missense variant	-	NC_000010.11:g.102594003C>T	-
RCV000467698	p.Pro232Ser	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102594003C>T	ClinVar
RCV000756730	p.Pro232Ser	missense variant	-	NC_000010.11:g.102594003C>T	ClinVar
RCV000628494	p.Ile235Val	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102594012A>G	ClinVar
rs144666812	p.Ile235Val	missense variant	-	NC_000010.11:g.102594012A>G	ESP,ExAC,TOPMed,gnomAD
rs1163154516	p.Met238Ile	missense variant	-	NC_000010.11:g.102594023G>A	gnomAD
rs1403040084	p.Arg239Gln	missense variant	-	NC_000010.11:g.102594025G>A	gnomAD
rs369465986	p.Arg239Trp	missense variant	-	NC_000010.11:g.102594024C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly241GluPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.102594028G>-	NCI-TCGA
NCI-TCGA novel	p.Glu242Asp	missense variant	-	NC_000010.11:g.102594035G>T	NCI-TCGA
rs544734275	p.Thr243Asn	missense variant	-	NC_000010.11:g.102594037C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs762294261	p.Thr243Ser	missense variant	-	NC_000010.11:g.102594036A>T	ExAC,gnomAD
rs1378645161	p.Ile244Val	missense variant	-	NC_000010.11:g.102594039A>G	TOPMed
rs1303650670	p.Phe245Ser	missense variant	-	NC_000010.11:g.102594043T>C	TOPMed
rs1337281398	p.Phe245Val	missense variant	-	NC_000010.11:g.102594042T>G	gnomAD
rs1283509771	p.Asp248Asn	missense variant	-	NC_000010.11:g.102594051G>A	TOPMed,gnomAD
RCV000685873	p.Asp248Asn	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102594051G>A	ClinVar
rs750808785	p.His250Arg	missense variant	-	NC_000010.11:g.102594058A>G	ExAC,gnomAD
rs1235137905	p.His250Gln	missense variant	-	NC_000010.11:g.102594059C>A	gnomAD
RCV000538851	p.His250Gln	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102594059C>A	ClinVar
rs1317467424	p.Gln252His	missense variant	-	NC_000010.11:g.102594065A>C	TOPMed,gnomAD
rs769755064	p.Glu253Lys	missense variant	-	NC_000010.11:g.102597140G>A	ExAC,gnomAD
rs775760512	p.Gly258Val	missense variant	-	NC_000010.11:g.102597156G>T	ExAC,gnomAD
rs749533220	p.Ile259Met	missense variant	-	NC_000010.11:g.102597160C>G	ExAC,TOPMed,gnomAD
RCV000532214	p.Ile259Met	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102597160C>G	ClinVar
rs775245784	p.Glu260Lys	missense variant	-	NC_000010.11:g.102597161G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp262His	missense variant	-	NC_000010.11:g.102597167G>C	NCI-TCGA
rs1293883579	p.Ser264Ala	missense variant	-	NC_000010.11:g.102597173T>G	gnomAD
rs762258680	p.Ala271Ser	missense variant	-	NC_000010.11:g.102597194G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala274Thr	missense variant	-	NC_000010.11:g.102597203G>A	NCI-TCGA
NCI-TCGA novel	p.Ala274Asp	missense variant	-	NC_000010.11:g.102597204C>A	NCI-TCGA
RCV000701195	p.Trp275Ter	nonsense	Gorlin syndrome (BCNS)	NC_000010.11:g.102597207G>A	ClinVar
rs772598822	p.Asp276Gly	missense variant	-	NC_000010.11:g.102597210A>G	ExAC,gnomAD
rs1296180292	p.Asp276Tyr	missense variant	-	NC_000010.11:g.102597209G>T	gnomAD
rs1060504147	p.Leu278Val	missense variant	-	NC_000010.11:g.102597215C>G	gnomAD
RCV000692421	p.Ser279Arg	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102597220C>G	ClinVar
rs1486885056	p.Ser279Asn	missense variant	-	NC_000010.11:g.102597219G>A	gnomAD
rs761003435	p.Arg280Trp	missense variant	-	NC_000010.11:g.102597221C>T	ExAC,TOPMed,gnomAD
rs145704867	p.Arg280Gln	missense variant	-	NC_000010.11:g.102597222G>A	ESP,ExAC,TOPMed,gnomAD
RCV000233540	p.Arg280Gln	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102597222G>A	ClinVar
rs752387760	p.Pro281Leu	missense variant	-	NC_000010.11:g.102597225C>T	ExAC,TOPMed,gnomAD
rs1215810497	p.Pro282Ser	missense variant	-	NC_000010.11:g.102597227C>T	TOPMed,gnomAD
COSM5831376	p.Glu283ArgPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.102597223_102597224insC	NCI-TCGA Cosmic
COSM426991	p.Glu283Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102597230G>A	NCI-TCGA Cosmic
rs1554852789	p.Glu283Ter	stop gained	-	NC_000010.11:g.102597230G>T	-
rs763598499	p.Glu283Gly	missense variant	-	NC_000010.11:g.102597231A>G	ExAC,gnomAD
RCV000498012	p.Glu283Ter	nonsense	-	NC_000010.11:g.102597230G>T	ClinVar
RCV000691871	p.Glu283Ter	frameshift	Gorlin syndrome (BCNS)	NC_000010.11:g.102597229dup	ClinVar
COSM6128144	p.Asp284Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102597233G>T	NCI-TCGA Cosmic
rs376865220	p.Asp285Asn	missense variant	-	NC_000010.11:g.102597236G>A	ESP,TOPMed
rs564728455	p.Glu286Lys	missense variant	-	NC_000010.11:g.102597239G>A	ExAC,gnomAD
rs1313405479	p.Glu286Gly	missense variant	-	NC_000010.11:g.102597240A>G	gnomAD
rs1240385834	p.Asp287Glu	missense variant	-	NC_000010.11:g.102597244C>G	gnomAD
rs750436246	p.Asp287Asn	missense variant	-	NC_000010.11:g.102597242G>A	ExAC,gnomAD
rs1398154303	p.Ser288Arg	missense variant	-	NC_000010.11:g.102597247C>A	TOPMed,gnomAD
rs755961394	p.Arg289Trp	missense variant	-	NC_000010.11:g.102597248C>T	ExAC,TOPMed,gnomAD
rs149016373	p.Arg289Gln	missense variant	-	NC_000010.11:g.102597249G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000566014	p.Arg289Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102597249G>A	ClinVar
RCV000465818	p.Arg289Gln	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102597249G>A	ClinVar
rs749461207	p.Ser290Thr	missense variant	-	NC_000010.11:g.102597252G>C	ExAC,gnomAD
RCV000821028	p.Ile291Thr	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102597255T>C	ClinVar
rs587778698	p.Ile291Thr	missense variant	-	NC_000010.11:g.102597255T>C	TOPMed
rs193921097	p.Cys292Phe	missense variant	-	NC_000010.11:g.102597258G>T	ExAC,gnomAD
RCV000628495	p.Cys292Phe	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102597258G>T	ClinVar
RCV000149087	p.Cys292Tyr	missense variant	Malignant tumor of prostate	NC_000010.11:g.102597258G>A	ClinVar
rs193921097	p.Cys292Tyr	missense variant	-	NC_000010.11:g.102597258G>A	ExAC,gnomAD
rs574002050	p.Ile293Val	missense variant	-	NC_000010.11:g.102597260A>G	UniProt,dbSNP
VAR_080423	p.Ile293Val	missense variant	-	NC_000010.11:g.102597260A>G	UniProt
rs574002050	p.Ile293Val	missense variant	-	NC_000010.11:g.102597260A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1487599100	p.Ile293Asn	missense variant	-	NC_000010.11:g.102597261T>A	gnomAD
rs574002050	p.Ile293Leu	missense variant	-	NC_000010.11:g.102597260A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs761234425	p.Gly294Asp	missense variant	-	NC_000010.11:g.102597264G>A	ExAC,TOPMed
rs143807689	p.Gly294Ser	missense variant	-	NC_000010.11:g.102597263G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000533501	p.Gly294Ser	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102597263G>A	ClinVar
NCI-TCGA novel	p.Gln296Ter	stop gained	-	NC_000010.11:g.102597269C>T	NCI-TCGA
rs771255988	p.Arg298Trp	missense variant	-	NC_000010.11:g.102597275C>T	ExAC,TOPMed,gnomAD
rs1197687313	p.Arg298Gln	missense variant	-	NC_000010.11:g.102597276G>A	gnomAD
rs374946819	p.Arg299Gln	missense variant	-	NC_000010.11:g.102597279G>A	ESP,ExAC,TOPMed,gnomAD
RCV000695755	p.Arg299Ter	frameshift	Gorlin syndrome (BCNS)	NC_000010.11:g.102597278_102597279insTGTGT	ClinVar
VAR_080424	p.Arg299_His484del	inframe_deletion	-	-	UniProt
rs1399033829	p.Leu300Phe	missense variant	-	NC_000010.11:g.102597281C>T	TOPMed
RCV000546124	p.Ser301Phe	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102597285C>T	ClinVar
RCV000689651	p.Ser301Cys	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102597285C>G	ClinVar
rs1554852823	p.Ser301Phe	missense variant	-	NC_000010.11:g.102597285C>T	-
rs1164574977	p.Gly302Ser	missense variant	-	NC_000010.11:g.102597287G>A	gnomAD
rs763689904	p.Lys303Asn	missense variant	-	NC_000010.11:g.102597292A>T	ExAC,gnomAD
rs1385719041	p.Asp304Tyr	missense variant	-	NC_000010.11:g.102597293G>T	gnomAD
rs148160011	p.Arg309Trp	missense variant	-	NC_000010.11:g.102599447C>T	ESP,ExAC,TOPMed,gnomAD
RCV000469147	p.Arg309Gln	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102599448G>A	ClinVar
rs770246373	p.Arg309Gln	missense variant	-	NC_000010.11:g.102599448G>A	ExAC,TOPMed,gnomAD
RCV000458074	p.Arg309Trp	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102599447C>T	ClinVar
rs376797758	p.Glu310Lys	missense variant	-	NC_000010.11:g.102599450G>A	ESP,ExAC,gnomAD
rs376797758	p.Glu310Gln	missense variant	-	NC_000010.11:g.102599450G>C	ESP,ExAC,gnomAD
rs1270751140	p.Thr311Asn	missense variant	-	NC_000010.11:g.102599454C>A	gnomAD
rs369741612	p.Arg314Lys	missense variant	-	NC_000010.11:g.102599463G>A	ESP,ExAC,gnomAD
rs141737156	p.Gly315Arg	missense variant	-	NC_000010.11:g.102599465G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1554853004	p.Leu316Phe	missense variant	-	NC_000010.11:g.102599468C>T	-
rs958173615	p.Leu316Pro	missense variant	-	NC_000010.11:g.102599469T>C	TOPMed
RCV000628514	p.Leu316Phe	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102599468C>T	ClinVar
rs988284678	p.Glu317Lys	missense variant	-	NC_000010.11:g.102599471G>A	TOPMed
rs535845342	p.Asn319Lys	missense variant	-	NC_000010.11:g.102599479C>G	1000Genomes,gnomAD
rs1479527039	p.Asn319Ser	missense variant	-	NC_000010.11:g.102599478A>G	gnomAD
rs753862598	p.Ser320Asn	missense variant	-	NC_000010.11:g.102599481G>A	ExAC,gnomAD
rs765142948	p.Pro322Ala	missense variant	-	NC_000010.11:g.102599486C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro322His	missense variant	-	NC_000010.11:g.102599487C>A	NCI-TCGA
rs1475601053	p.Val323Asp	missense variant	-	NC_000010.11:g.102599490T>A	gnomAD
rs1420089970	p.Val323Ile	missense variant	-	NC_000010.11:g.102599489G>A	gnomAD
rs1170234423	p.Leu324Pro	missense variant	-	NC_000010.11:g.102599493T>C	gnomAD
rs752846043	p.Ile327Val	missense variant	-	NC_000010.11:g.102599501A>G	ExAC,TOPMed,gnomAD
rs1060501107	p.Gln330Arg	missense variant	-	NC_000010.11:g.102599511A>G	-
RCV000459322	p.Gln330Arg	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102599511A>G	ClinVar
RCV000563167	p.Arg331Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102599514G>A	ClinVar
RCV000537135	p.Arg331Trp	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102599513C>T	ClinVar
rs768170991	p.Arg331Trp	missense variant	-	NC_000010.11:g.102599513C>T	ExAC,TOPMed,gnomAD
rs141359583	p.Arg331Gln	missense variant	-	NC_000010.11:g.102599514G>A	ESP,ExAC,TOPMed,gnomAD
RCV000463863	p.Arg331Gln	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102599514G>A	ClinVar
rs747125633	p.Gln332Glu	missense variant	-	NC_000010.11:g.102599516C>G	ExAC,TOPMed,gnomAD
rs1295694684	p.Gly334Ala	missense variant	-	NC_000010.11:g.102599523G>C	gnomAD
NCI-TCGA novel	p.Gly334Asp	missense variant	-	NC_000010.11:g.102599523G>A	NCI-TCGA
rs757401093	p.Leu335Phe	missense variant	-	NC_000010.11:g.102599525C>T	ExAC,gnomAD
RCV000549074	p.Ala336Thr	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102599528G>A	ClinVar
rs746448939	p.Ala336Thr	missense variant	-	NC_000010.11:g.102599528G>A	ExAC,TOPMed,gnomAD
rs377274250	p.His337Arg	missense variant	-	NC_000010.11:g.102599532A>G	ESP,ExAC,TOPMed,gnomAD
rs145082320	p.Asp338Asn	missense variant	-	NC_000010.11:g.102599534G>A	ESP,ExAC,TOPMed,gnomAD
rs145082320	p.Asp338His	missense variant	-	NC_000010.11:g.102599534G>C	ESP,ExAC,TOPMed,gnomAD
RCV000231709	p.Arg339Trp	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102599537C>T	ClinVar
rs773037813	p.Arg339Trp	missense variant	-	NC_000010.11:g.102599537C>T	ExAC,TOPMed,gnomAD
rs369910221	p.Arg339Pro	missense variant	-	NC_000010.11:g.102599538G>C	ESP,ExAC,TOPMed,gnomAD
RCV000628506	p.Arg339Pro	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102599538G>C	ClinVar
rs369910221	p.Arg339Gln	missense variant	-	NC_000010.11:g.102599538G>A	ESP,ExAC,TOPMed,gnomAD
RCV000423552	p.Ala340Ser	missense variant	-	NC_000010.11:g.102599540G>T	ClinVar
rs34135067	p.Ala340Pro	missense variant	-	NC_000010.11:g.102599540G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs34135067	p.Ala340Ser	missense variant	-	NC_000010.11:g.102599540G>T	UniProt,dbSNP
VAR_021567	p.Ala340Ser	missense variant	-	NC_000010.11:g.102599540G>T	UniProt
rs34135067	p.Ala340Ser	missense variant	-	NC_000010.11:g.102599540G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000122096	p.Pro341Leu	missense variant	-	NC_000010.11:g.102599544C>T	ClinVar
rs587778699	p.Pro341Leu	missense variant	-	NC_000010.11:g.102599544C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser342Asn	missense variant	-	NC_000010.11:g.102615270G>A	NCI-TCGA
RCV000456212	p.Arg343Cys	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615272C>T	ClinVar
rs751728820	p.Arg343Cys	missense variant	-	NC_000010.11:g.102615272C>T	ExAC,TOPMed,gnomAD
RCV000466509	p.Arg343His	missense variant	Medulloblastoma (MDB)	NC_000010.11:g.102615273G>A	ClinVar
RCV000260834	p.Arg343His	missense variant	Medulloblastoma (MDB)	NC_000010.11:g.102615273G>A	ClinVar
rs79299301	p.Arg343Leu	missense variant	-	NC_000010.11:g.102615273G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs79299301	p.Arg343His	missense variant	-	NC_000010.11:g.102615273G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000566455	p.Arg343His	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102615273G>A	ClinVar
RCV000763641	p.Arg343His	missense variant	Medulloblastoma (MDB)	NC_000010.11:g.102615273G>A	ClinVar
rs1447671524	p.Glu348Gln	missense variant	-	NC_000010.11:g.102615287G>C	TOPMed
RCV000726658	p.Ser349Gly	missense variant	-	NC_000010.11:g.102615290A>G	ClinVar
rs1419645738	p.Ser349Ile	missense variant	-	NC_000010.11:g.102615291G>T	gnomAD
rs368178771	p.Ser349Gly	missense variant	-	NC_000010.11:g.102615290A>G	ESP,ExAC,TOPMed,gnomAD
RCV000562404	p.Ser349Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102615290A>G	ClinVar
RCV000763642	p.Ser349Gly	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615290A>G	ClinVar
RCV000471241	p.Ser349Gly	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615290A>G	ClinVar
RCV000628497	p.Ser352Tyr	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615300C>A	ClinVar
rs1464341550	p.Ser352Tyr	missense variant	-	NC_000010.11:g.102615300C>A	TOPMed
rs1043574191	p.Thr353Ser	missense variant	-	NC_000010.11:g.102615302A>T	-
rs137880855	p.Thr353Met	missense variant	-	NC_000010.11:g.102615303C>T	ESP,ExAC,TOPMed,gnomAD
rs137880855	p.Thr353Met	missense variant	-	NC_000010.11:g.102615303C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000537770	p.Thr353Ser	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615302A>T	ClinVar
RCV000464552	p.Thr353Met	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615303C>T	ClinVar
RCV000628512	p.Ala354Gly	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615306C>G	ClinVar
rs1554854570	p.Ala354Thr	missense variant	-	NC_000010.11:g.102615305G>A	-
rs1554854572	p.Ala354Gly	missense variant	-	NC_000010.11:g.102615306C>G	-
RCV000550548	p.Ala354Thr	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615305G>A	ClinVar
RCV000699587	p.Ile355Val	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615308A>G	ClinVar
rs1432365875	p.His358Pro	missense variant	-	NC_000010.11:g.102615318A>C	TOPMed,gnomAD
rs1432365875	p.His358Arg	missense variant	-	NC_000010.11:g.102615318A>G	TOPMed,gnomAD
RCV000570457	p.Arg362Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102615329C>T	ClinVar
rs755390277	p.Arg362His	missense variant	-	NC_000010.11:g.102615330G>A	ExAC,gnomAD
rs36049457	p.Arg362Cys	missense variant	-	NC_000010.11:g.102615329C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000539269	p.Arg362Leu	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615330G>T	ClinVar
rs755390277	p.Arg362Leu	missense variant	-	NC_000010.11:g.102615330G>T	ExAC,gnomAD
RCV000526543	p.Arg362His	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615330G>A	ClinVar
rs755390277	p.Arg362His	missense variant	-	NC_000010.11:g.102615330G>A	NCI-TCGA,NCI-TCGA Cosmic
RCV000628502	p.Thr363Met	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615333C>T	ClinVar
rs1554854578	p.Thr363Met	missense variant	-	NC_000010.11:g.102615333C>T	-
rs749802616	p.Arg364Gln	missense variant	-	NC_000010.11:g.102615336G>A	ExAC,gnomAD
rs1305395503	p.Arg364Trp	missense variant	-	NC_000010.11:g.102615335C>T	gnomAD
rs749802616	p.Arg364Pro	missense variant	-	NC_000010.11:g.102615336G>C	ExAC,gnomAD
rs1305395503	p.Arg364Trp	missense variant	-	NC_000010.11:g.102615335C>T	NCI-TCGA
rs746580970	p.Ser368Arg	missense variant	-	NC_000010.11:g.102615349C>G	ExAC,TOPMed,gnomAD
RCV000525787	p.Val369Ile	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615350G>A	ClinVar
rs1554854584	p.Val369Ala	missense variant	-	NC_000010.11:g.102615351T>C	-
rs149449923	p.Val369Ile	missense variant	-	NC_000010.11:g.102615350G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000628503	p.Val369Ala	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615351T>C	ClinVar
RCV000568981	p.His370Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102615354_102615355delinsCG	ClinVar
rs1554854585	p.His370Pro	missense variant	-	NC_000010.11:g.102615354_102615355delinsCG	-
rs1216604675	p.Phe373Val	missense variant	-	NC_000010.11:g.102615362T>G	gnomAD
rs1265012285	p.Asn374Ser	missense variant	-	NC_000010.11:g.102615366A>G	TOPMed,gnomAD
rs769345450	p.Gln375Arg	missense variant	-	NC_000010.11:g.102615369A>G	ExAC,gnomAD
rs1254002019	p.Gly378Ala	missense variant	-	NC_000010.11:g.102615378G>C	TOPMed,gnomAD
rs1256959985	p.Gly378Arg	missense variant	-	NC_000010.11:g.102615377G>A	TOPMed
rs574279090	p.Ile381Val	missense variant	-	NC_000010.11:g.102615386A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs768377755	p.Pro382Ser	missense variant	-	NC_000010.11:g.102615389C>T	ExAC,gnomAD
rs1401882800	p.Pro382Leu	missense variant	-	NC_000010.11:g.102615390C>T	UniProt,dbSNP
VAR_080425	p.Pro382Leu	missense variant	-	NC_000010.11:g.102615390C>T	UniProt
rs1401882800	p.Pro382Leu	missense variant	-	NC_000010.11:g.102615390C>T	gnomAD
rs991500079	p.Leu383Val	missense variant	-	NC_000010.11:g.102615392C>G	TOPMed
rs375419295	p.Cys384Ser	missense variant	-	NC_000010.11:g.102615395T>A	ESP,ExAC,TOPMed,gnomAD
RCV000538222	p.Cys384Arg	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615395T>C	ClinVar
rs375419295	p.Cys384Arg	missense variant	-	NC_000010.11:g.102615395T>C	ESP,ExAC,TOPMed,gnomAD
rs761893182	p.Leu385Pro	missense variant	-	NC_000010.11:g.102615399T>C	ExAC,gnomAD
rs767814106	p.Arg386Thr	missense variant	-	NC_000010.11:g.102615402G>C	ExAC,TOPMed,gnomAD
rs767814106	p.Arg386Lys	missense variant	-	NC_000010.11:g.102615402G>A	ExAC,TOPMed,gnomAD
rs747945243	p.Gly387Asp	missense variant	-	NC_000010.11:g.102617292G>A	ExAC,gnomAD
rs1234263304	p.His391Tyr	missense variant	-	NC_000010.11:g.102617303C>T	TOPMed
rs201326378	p.Arg393Trp	missense variant	-	NC_000010.11:g.102617309C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000779015	p.Arg393Ter	frameshift	Medulloblastoma (MDB)	NC_000010.11:g.102617306_102617307dup	ClinVar
rs201326378	p.Arg393Trp	missense variant	-	NC_000010.11:g.102617309C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000628500	p.Arg393Trp	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102617309C>T	ClinVar
rs1055194219	p.Arg393Gln	missense variant	-	NC_000010.11:g.102617310G>A	TOPMed
NCI-TCGA novel	p.Phe395Val	missense variant	-	NC_000010.11:g.102617315T>G	NCI-TCGA
rs766508656	p.Tyr397Cys	missense variant	-	NC_000010.11:g.102617322A>G	ExAC,TOPMed,gnomAD
RCV000628505	p.Ser399Asn	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102617328G>A	ClinVar
rs1421345157	p.Ser399Asn	missense variant	-	NC_000010.11:g.102617328G>A	TOPMed,gnomAD
rs776868943	p.Thr401Ile	missense variant	-	NC_000010.11:g.102617334C>T	ExAC,gnomAD
rs1312190379	p.Met404Val	missense variant	-	NC_000010.11:g.102617342A>G	gnomAD
rs760076290	p.Ala405Val	missense variant	-	NC_000010.11:g.102617346C>T	ExAC,gnomAD
rs1416629342	p.Ile406Met	missense variant	-	NC_000010.11:g.102617350C>G	gnomAD
rs1554854758	p.Ile406Thr	missense variant	-	NC_000010.11:g.102617349T>C	-
rs1554854758	p.Ile406Thr	missense variant	Joubert syndrome 32 (JBTS32)	NC_000010.11:g.102617349T>C	UniProt,dbSNP
VAR_080426	p.Ile406Thr	missense variant	Joubert syndrome 32 (JBTS32)	NC_000010.11:g.102617349T>C	UniProt
RCV000515186	p.Ile406Thr	missense variant	JOUBERT SYNDROME 32 (JBTS32)	NC_000010.11:g.102617349T>C	ClinVar
rs1060501116	p.Ile406Val	missense variant	-	NC_000010.11:g.102617348A>G	-
RCV000472492	p.Ile406Val	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102617348A>G	ClinVar
rs1313595676	p.Thr407Lys	missense variant	-	NC_000010.11:g.102617352C>A	gnomAD
RCV000568227	p.Thr411Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102617364C>T	ClinVar
rs368020224	p.Thr411Met	missense variant	-	NC_000010.11:g.102617364C>T	ESP,ExAC,TOPMed,gnomAD
RCV000763643	p.Thr411Met	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102617364C>T	ClinVar
RCV000705071	p.Thr411Met	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102617364C>T	ClinVar
NCI-TCGA novel	p.Gly412Arg	missense variant	-	NC_000010.11:g.102617366G>A	NCI-TCGA
rs779490664	p.Ala416Thr	missense variant	-	NC_000010.11:g.102617378G>A	NCI-TCGA
rs779490664	p.Ala416Thr	missense variant	-	NC_000010.11:g.102617378G>A	ExAC,gnomAD
RCV000628499	p.Ala416Thr	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102617378G>A	ClinVar
rs748828586	p.Thr419Ala	missense variant	-	NC_000010.11:g.102617387A>G	ExAC,gnomAD
rs748828586	p.Thr419Ser	missense variant	-	NC_000010.11:g.102617387A>T	ExAC,gnomAD
COSM4011296	p.His422Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102617397A>G	NCI-TCGA Cosmic
rs1427876079	p.Ala425Val	missense variant	-	NC_000010.11:g.102617406C>T	TOPMed
rs748099523	p.Ala425Thr	missense variant	-	NC_000010.11:g.102617405G>A	ExAC,TOPMed,gnomAD
RCV000552236	p.Ala425Thr	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102617405G>A	ClinVar
rs772895878	p.Ala426Val	missense variant	-	NC_000010.11:g.102617409C>T	ExAC,gnomAD
rs1189930416	p.Ala426Thr	missense variant	-	NC_000010.11:g.102617408G>A	TOPMed
rs747175991	p.His427Tyr	missense variant	-	NC_000010.11:g.102617411C>T	ExAC,gnomAD
rs771305734	p.His427Arg	missense variant	-	NC_000010.11:g.102617412A>G	ExAC,TOPMed,gnomAD
rs1213931205	p.Gln432Pro	missense variant	-	NC_000010.11:g.102617427A>C	TOPMed
rs767376210	p.Ile433Val	missense variant	-	NC_000010.11:g.102627175A>G	ExAC,TOPMed,gnomAD
rs766370528	p.Glu437Lys	missense variant	-	NC_000010.11:g.102627187G>A	NCI-TCGA,NCI-TCGA Cosmic
rs766370528	p.Glu437Lys	missense variant	-	NC_000010.11:g.102627187G>A	ExAC,gnomAD
RCV000761042	p.Glu437Lys	missense variant	B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified	NC_000010.11:g.102627187G>A	ClinVar
rs1169655389	p.Glu438Gly	missense variant	-	NC_000010.11:g.102627191A>G	gnomAD
RCV000628501	p.Phe439Ser	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102627194T>C	ClinVar
rs778975698	p.Phe439Ser	missense variant	-	NC_000010.11:g.102627194T>C	ExAC,gnomAD
rs778975698	p.Phe439Cys	missense variant	-	NC_000010.11:g.102627194T>G	ExAC,gnomAD
rs1311816626	p.Lys442Asn	missense variant	-	NC_000010.11:g.102627204A>C	TOPMed
rs772598739	p.Lys442Arg	missense variant	-	NC_000010.11:g.102627203A>G	ExAC,TOPMed,gnomAD
RCV000532935	p.Met443Ile	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102627207G>A	ClinVar
rs773805575	p.Met443Ile	missense variant	-	NC_000010.11:g.102627207G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met443Leu	missense variant	-	NC_000010.11:g.102627205A>T	NCI-TCGA
COSM5472962	p.Glu445Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102627213G>T	NCI-TCGA Cosmic
rs556707582	p.Glu445Lys	missense variant	-	NC_000010.11:g.102627211G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Glu448Lys	missense variant	-	NC_000010.11:g.102627220G>A	NCI-TCGA
RCV000707192	p.Asp449Glu	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102627225T>G	ClinVar
NCI-TCGA novel	p.Ser452Tyr	missense variant	-	NC_000010.11:g.102627233C>A	NCI-TCGA
rs1383666584	p.Glu454Gln	missense variant	-	NC_000010.11:g.102627238G>C	gnomAD
rs947720538	p.Lys457Ile	missense variant	-	NC_000010.11:g.102630070A>T	TOPMed,gnomAD
rs947720538	p.Lys457Arg	missense variant	-	NC_000010.11:g.102630070A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Leu458Arg	missense variant	-	NC_000010.11:g.102630073T>G	NCI-TCGA
RCV000545540	p.Lys460Arg	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102630079A>G	ClinVar
RCV000763644	p.Lys460Arg	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102630079A>G	ClinVar
rs778125780	p.Lys460Arg	missense variant	-	NC_000010.11:g.102630079A>G	ExAC,TOPMed,gnomAD
RCV000561960	p.Lys460Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102630079A>G	ClinVar
NCI-TCGA novel	p.Glu461Gln	missense variant	-	NC_000010.11:g.102630081G>C	NCI-TCGA
rs747617835	p.Ser463Gly	missense variant	-	NC_000010.11:g.102630087A>G	ExAC,gnomAD
rs147404195	p.Ser463Asn	missense variant	-	NC_000010.11:g.102630088G>A	ESP,ExAC,gnomAD
COSM3751497	p.Glu466Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102630096G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys467Asn	missense variant	-	NC_000010.11:g.102630101G>C	NCI-TCGA
NCI-TCGA novel	p.Lys467Asn	missense variant	-	NC_000010.11:g.102630101G>T	NCI-TCGA
NCI-TCGA novel	p.Lys470Asn	missense variant	-	NC_000010.11:g.102630110G>T	NCI-TCGA
rs1267387394	p.Pro475Leu	missense variant	-	NC_000010.11:g.102630124C>T	gnomAD
COSM4925000	p.Asp476Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102630127A>T	NCI-TCGA Cosmic
rs777069460	p.Asp476Glu	missense variant	-	NC_000010.11:g.102630128C>A	ExAC,TOPMed,gnomAD
rs1060501117	p.Val477Met	missense variant	-	NC_000010.11:g.102630129G>A	gnomAD
RCV000457004	p.Val477Met	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102630129G>A	ClinVar
rs768454343	p.Phe479Leu	missense variant	-	NC_000010.11:g.102630137C>G	ExAC,TOPMed,gnomAD
VAR_080428	p.Ser481Asn	Missense	-	-	UniProt
RCV000567793	p.Pro482Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102630145C>T	ClinVar
rs765358771	p.Pro482Arg	missense variant	-	NC_000010.11:g.102630145C>G	ExAC,TOPMed,gnomAD
rs765358771	p.Pro482Leu	missense variant	-	NC_000010.11:g.102630145C>T	NCI-TCGA,NCI-TCGA Cosmic
rs765358771	p.Pro482Leu	missense variant	-	NC_000010.11:g.102630145C>T	ExAC,TOPMed,gnomAD
RCV000458099	p.Leu483Pro	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102630148T>C	ClinVar
rs1060501115	p.Leu483Pro	missense variant	-	NC_000010.11:g.102630148T>C	-
rs941755884	p.Ter485Glu	stop lost	-	NC_000010.11:g.102630153T>G	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0004610	Bacteremia	disease	BEFREE
C0004779	Basal Cell Nevus Syndrome	disease	BEFREE;CLINVAR;CTD_human;MGD;ORPHANET
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0006118	Brain Neoplasms	group	BEFREE
C0006826	Malignant Neoplasms	group	HPO
C0007103	Malignant neoplasm of endometrium	disease	BEFREE
C0007117	Basal cell carcinoma	disease	CTD_human;HPO
C0008924	Cleft upper lip	disease	HPO
C0010964	Dandy-Walker Syndrome	disease	HPO
C0017601	Glaucoma	disease	HPO
C0018133	Graft-vs-Host Disease	disease	BEFREE
C0019569	Hirschsprung Disease	disease	BEFREE
C0020255	Hydrocephalus	disease	GENOMICS_ENGLAND;HPO
C0020517	Hypersensitivity	group	GWASCAT
C0020534	Orbital separation excessive	phenotype	HPO
C0021294	Infant, Premature	phenotype	BEFREE
C0021390	Inflammatory Bowel Diseases	group	GWASCAT
C0025149	Medulloblastoma	disease	BEFREE;CGI;CLINVAR;CTD_human;HPO;LHGDN
C0025286	Meningioma	disease	BEFREE
C0026010	Microphthalmos	disease	HPO
C0027651	Neoplasms	group	HPO
C0027962	Melanocytic nevus	disease	HPO
C0035411	Rhabdomyoma	disease	BEFREE
C0035412	Rhabdomyosarcoma	disease	BEFREE
C0036341	Schizophrenia	disease	GWASCAT
C0036690	Septicemia	disease	BEFREE
C0036857	Severe mental retardation (I.Q. 20-34)	disease	HPO
C0037293	Skin tag	phenotype	HPO
C0037932	Curvature of spine	phenotype	HPO
C0038379	Strabismus	disease	HPO
C0079541	Holoprosencephaly	disease	GENOMICS_ENGLAND
C0080178	Spina Bifida	disease	HPO
C0086543	Cataract	disease	HPO
C0149951	Ovarian Fibromata	disease	HPO
C0152427	Polydactyly	disease	HPO
C0152438	Sprengel deformity	disease	HPO
C0155285	Orbital cyst	phenotype	HPO
C0200638	Eosinophil count procedure	phenotype	GWASCAT
C0200641	Blood basophil count (lab test)	phenotype	GWASCAT
C0205833	Medullomyoblastoma	disease	CTD_human
C0205834	Meningiomas, Multiple	disease	BEFREE;ORPHANET
C0206656	Embryonal Rhabdomyosarcoma	disease	BEFREE
C0221354	Frontal bossing	disease	HPO
C0221357	Brachydactyly	disease	HPO
C0238198	Gastrointestinal Stromal Tumors	group	CTD_human
C0240063	Coloboma of iris	phenotype	HPO
C0241397	Triphalangeal thumb	disease	HPO
C0243026	Sepsis	disease	BEFREE
C0265677	Congenital hemivertebra	disease	HPO
C0265695	Congenital fusion of ribs	disease	HPO
C0266623	Congenital anomaly of neck	group	HPO
C0270685	Cerebral calcification	phenotype	HPO
C0278510	Childhood Medulloblastoma	disease	BEFREE;CTD_human
C0278876	Adult Medulloblastoma	disease	CTD_human
C0302501	Mandibular hyperplasia	phenotype	HPO
C0334482	Fetal rhabdomyoma	disease	BEFREE
C0345397	Accessory rib	disease	HPO
C0345967	Malignant mesothelioma	disease	BEFREE
C0345996	Milium Cyst	phenotype	HPO
C0399526	Class III malocclusion	disease	HPO
C0423776	Palmar pit	phenotype	HPO
C0426817	Short ribs	phenotype	HPO
C0431399	Familial aplasia of the vermis	disease	BEFREE
C0431904	Ulnar polydactyly of fingers	disease	HPO
C0455829	Waist Circumference	phenotype	GWASCAT
C0476089	Endometrial Carcinoma	disease	BEFREE
C0575158	Kyphoscoliosis deformity of spine	phenotype	HPO
C0575167	Deformity of neck	phenotype	HPO
C0578022	Finding of body mass index	phenotype	GWASCAT
C0677886	Epithelial ovarian cancer	disease	HPO
C0699885	Carcinoma of bladder	disease	BEFREE
C0700208	Acquired scoliosis	phenotype	HPO
C0750879	Eosinophil count result	phenotype	GWASCAT
C0751291	Desmoplastic Medulloblastoma	disease	BEFREE;CLINVAR;CTD_human;ORPHANET
C0796147	Acrocallosal Syndrome	disease	ORPHANET
C0812437	Oculo-dento-digital syndrome	disease	BEFREE;ORPHANET
C0856825	Acute GVH disease	disease	BEFREE
C1096654	Cardiac fibroma	disease	HPO
C1275668	Melanotic medulloblastoma	disease	CTD_human
C1305855	Body mass index	phenotype	GWASCAT
C1332852	Cardiac rhabdomyoma	disease	HPO
C1333989	Familial meningioma	disease	CLINVAR;CTD_human
C1334970	Medulloblastoma with extensive nodularity	disease	CLINVAR;ORPHANET
C1368275	Pigmented Basal Cell Carcinoma	disease	CTD_human
C1397139	Calcification of falx cerebri	disease	HPO
C1510497	Lens Opacities	phenotype	HPO
C1511789	Desmoplastic	disease	BEFREE
C1519383	Smoking Behaviors	phenotype	GWASCAT
C1695776	Vertebral wedging	phenotype	HPO
C1708604	Keratocystic Odontogenic Tumor	disease	BEFREE;HPO
C1835763	Vertebral body fusion	phenotype	HPO
C1839764	Broad flat nasal bridge	phenotype	HPO
C1840309	Short 4th metacarpal	phenotype	HPO
C1845847	Coarse facial features	phenotype	HPO
C1849073	Fused vertebrae	phenotype	HPO
C1849367	Nasal bridge wide	phenotype	HPO
C1852301	Plantar pits	phenotype	HPO
C1853737	Prominent occiput	phenotype	HPO
C1854301	Motor delay	phenotype	HPO
C1856872	Down-sloping shoulders	phenotype	HPO
C1857126	Parietal bossing	phenotype	HPO
C1857679	Sloping forehead	phenotype	HPO
C1859680	Broad face	phenotype	HPO
C1860493	Abnormality of the sternum	phenotype	HPO
C1861866	Aplasia/Hypoplasia of the corpus callosum	phenotype	HPO
C1862304	Hamartomatous polyp of stomach	disease	HPO
C1862313	Short distal phalanx of the thumb	phenotype	HPO
C1862314	Basal cell nevus	disease	HPO
C1866959	Sella Turcica, Bridged	phenotype	HPO
C1883486	Uterine Corpus Cancer	disease	BEFREE
C2227134	mandibular excess (physical finding)	phenotype	HPO
C2931760	Acrocallosal syndrome, Schinzel type	disease	ORPHANET
C2981150	Uranostaphyloschisis	disease	HPO
C3179349	Gastrointestinal Stromal Sarcoma	disease	CTD_human
C3278509	Spinal fusion	phenotype	HPO
C3811653	Experimental Organism Basal Cell Carcinoma	phenotype	BEFREE
C4020874	No development of motor milestones	phenotype	HPO
C4025374	Irregular ossification of hand bones	phenotype	HPO
C4072825	Thickened facial skin with coarse facial features	phenotype	HPO
C4083076	Increased head circumference	phenotype	HPO
C4255213	Increased size of skull	phenotype	HPO
C4277690	Ciliopathies	group	GENOMICS_ENGLAND
C4280269	Noncancerous mole	phenotype	HPO
C4280625	Decreased size of eyeball	phenotype	HPO
C4280628	Malformation of the neck	phenotype	HPO
C4280644	Increased size of the mandible	phenotype	HPO
C4280645	Hypertrophy of lower jaw	phenotype	HPO
C4280652	Prominent back of the head	phenotype	HPO
C4280664	Big calvaria	phenotype	HPO
C4280808	Abnormally small eyeball	phenotype	HPO
C4540342	JOUBERT SYNDROME 32	disease	UNIPROT

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003714	transcription corepressor activity	TAS
GO:0005515	protein binding	IPI
GO:0008013	beta-catenin binding	IEA
GO:0008134	transcription factor binding	IDA
GO:0008134	transcription factor binding	IBA
GO:0019901	protein kinase binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA
GO:0001501	skeletal system development	TAS
GO:0001843	neural tube closure	IEA
GO:0001947	heart looping	IEA
GO:0003281	ventricular septum development	IEA
GO:0006355	regulation of transcription, DNA-templated	TAS
GO:0006508	proteolysis	TAS
GO:0007165	signal transduction	TAS
GO:0007275	multicellular organism development	TAS
GO:0021775	smoothened signaling pathway involved in ventral spinal cord interneuron specification	IEA
GO:0021776	smoothened signaling pathway involved in spinal cord motor neuron cell fate specification	IEA
GO:0035904	aorta development	IEA
GO:0042308	negative regulation of protein import into nucleus	TAS
GO:0042994	cytoplasmic sequestering of transcription factor	IBA
GO:0043433	negative regulation of DNA-binding transcription factor activity	TAS
GO:0043433	negative regulation of DNA-binding transcription factor activity	IBA
GO:0043588	skin development	IEA
GO:0045668	negative regulation of osteoblast differentiation	TAS
GO:0045879	negative regulation of smoothened signaling pathway	TAS
GO:0045879	negative regulation of smoothened signaling pathway	IMP
GO:0060976	coronary vasculature development	IEA
GO:1901621	negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IEA
GO:2000059	negative regulation of ubiquitin-dependent protein catabolic process	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IDA
GO:0005634	nucleus	IBA
GO:0005634	nucleus	IMP
GO:0005654	nucleoplasm	IDA
GO:0005737	cytoplasm	IDA
GO:0005737	cytoplasm	NAS
GO:0005737	cytoplasm	IBA
GO:0005737	cytoplasm	IMP
GO:0005829	cytosol	TAS
GO:0097542	ciliary tip	TAS
GO:0097546	ciliary base	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-162582	Signal Transduction	IEA
R-HSA-5358351	Signaling by Hedgehog	TAS
R-HSA-5358351	Signaling by Hedgehog	IEA
R-HSA-5610780	Degradation of GLI1 by the proteasome	TAS
R-HSA-5610780	Degradation of GLI1 by the proteasome	IEA
R-HSA-5610783	Degradation of GLI2 by the proteasome	IEA
R-HSA-5610785	GLI3 is processed to GLI3R by the proteasome	TAS
R-HSA-5610787	Hedgehog 'off' state	TAS
R-HSA-5610787	Hedgehog 'off' state	IEA
R-HSA-5632684	Hedgehog 'on' state	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of SUFU mRNA	21346803
C009407	2,5,2',5'-tetrachlorobiphenyl	2,5,2',5'-tetrachlorobiphenyl results in increased expression of SUFU mRNA	23829299
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of SUFU mRNA	21346803
C496492	abrine	abrine results in decreased expression of SUFU mRNA	31054353
D020106	Acrylamide	Acrylamide results in increased expression of SUFU mRNA	30807115
D000661	Amphetamine	Amphetamine results in decreased expression of SUFU mRNA	30779732
D001151	Arsenic	Arsenic results in increased methylation of SUFU promoter	21291286
D001280	Atrazine	Atrazine results in increased expression of SUFU mRNA	25929836
C006780	bisphenol A	bisphenol A affects the expression of SUFU mRNA	21786754
C006780	bisphenol A	bisphenol A results in decreased expression of SUFU mRNA	28238728
C006780	bisphenol A	MIR107 mRNA promotes the reaction [bisphenol A results in decreased expression of SUFU mRNA]	28238728
C006780	bisphenol A	bisphenol A affects the expression of SUFU mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of SUFU gene	28505145
C012843	cinnamic aldehyde	cinnamic aldehyde results in increased expression of SUFU mRNA	19524605
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of SUFU mRNA	19549813
D004026	Dieldrin	Dieldrin results in decreased expression of SUFU mRNA	20438755
D004317	Doxorubicin	Doxorubicin results in decreased expression of SUFU mRNA	29803840
D004958	Estradiol	Estradiol results in decreased expression of SUFU mRNA	16202921
D000431	Ethanol	Ethanol affects the expression of SUFU mRNA	30319688
D017313	Fenretinide	Fenretinide results in decreased expression of SUFU mRNA	28973697
D005472	Fluorouracil	Fluorouracil results in decreased expression of SUFU mRNA	18776995
C538724	HhAntag691	SUFU gene mutant form results in decreased susceptibility to HhAntag691	24973920
C538724	HhAntag691	HhAntag691 inhibits the reaction [SUFU gene mutant form results in increased expression of GLI2 mRNA]	24973920
D006830	Hydralazine	[Hydralazine co-treated with Valproic Acid] results in increased expression of SUFU mRNA	17183730
D007213	Indomethacin	Indomethacin results in increased expression of SUFU mRNA	28201806
C561695	(+)-JQ1 compound	(+)-JQ1 compound inhibits the reaction [SUFU gene mutant form results in increased expression of GLI1 mRNA]	24973920
C561695	(+)-JQ1 compound	(+)-JQ1 compound inhibits the reaction [SUFU gene mutant form results in increased expression of GLI1 protein]	24973920
C561695	(+)-JQ1 compound	(+)-JQ1 compound inhibits the reaction [SUFU gene mutant form results in increased expression of GLI2 mRNA]	24973920
C561695	(+)-JQ1 compound	(+)-JQ1 compound inhibits the reaction [SUFU gene mutant form results in increased expression of SMO mRNA]	24973920
D019344	Lactic Acid	Lactic Acid results in decreased expression of SUFU mRNA	30851411
D009534	Niclosamide	Niclosamide results in decreased expression of SUFU mRNA	31398420
C410127	PCB 180	PCB 180 results in increased expression of SUFU mRNA	23829299
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of SUFU mRNA	24642059
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of SUFU mRNA	19710929
D011192	Potassium Dichromate	Potassium Dichromate results in decreased expression of SUFU mRNA	23608068
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of SUFU mRNA	24780913
C468919	SANT-1 compound	SANT-1 compound inhibits the reaction [SUFU gene mutant form results in increased expression of GLI2 mRNA]	24973920
C561435	sonidegib	SUFU gene mutant form results in decreased susceptibility to sonidegib	24973920
C561435	sonidegib	sonidegib inhibits the reaction [SUFU gene mutant form results in increased expression of GLI2 mRNA]	24973920
C012589	trichostatin A	trichostatin A affects the expression of SUFU mRNA	28542535
C015559	trimellitic anhydride	trimellitic anhydride results in increased expression of SUFU mRNA	19042947
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of SUFU mRNA	26179874
D014414	Tungsten	Tungsten results in decreased expression of SUFU mRNA	30912803
D014520	Urethane	Urethane results in increased expression of SUFU mRNA	28818685
D014635	Valproic Acid	[Hydralazine co-treated with Valproic Acid] results in increased expression of SUFU mRNA	17183730

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-1186	Ciliopathy
KW-0963	Cytoplasm
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-1017	Isopeptide bond
KW-0979	Joubert syndrome
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0043	Tumor suppressor
KW-0832	Ubl conjugation

Interpro

InterPro ID	InterPro Term
IPR020941	SUFU-like_domain
IPR024314	SUFU_C
IPR038489	SUFU_C_sf
IPR037181	SUFU_N
IPR007768	Suppressor_of_fused
IPR016591	Suppressor_of_fused_euk

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF05076	SUFU
PF12470	SUFU_C

Gene: SUFU

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction