Summary ?
GeneID8218
SymbolCLTCL1
SynonymsCHC22|CLH22|CLTCL|CLTD
Descriptionclathrin heavy chain like 1
ReferenceMIM:601273|HGNC:HGNC:2093|Ensembl:ENSG00000070371|HPRD:03172|Vega:OTTHUMG00000150109
Gene typeprotein-coding
Map location22q11.21
Pascal p-value0.023
TADA p-value0.023
Fetal beta1.002
eGeneAnterior cingulate cortex BA24
Cerebellar Hemisphere
Cortex
Frontal Cortex BA9
Myers' cis & trans
Meta

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CNV:YESCopy number variation studiesManual curation
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Gulsuner_2013Whole Exome Sequencing analysis155 DNMs identified by exome sequencing of quads or trios of schizophrenia individuals and their parents.
GSMA_IGenome scan meta-analysisPsr: 0.031 
ExpressionMeta-analysis of gene expressionP value: 1.421 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
CLTCL1chr2219213768CGNM_001835
NM_007098
p.641V>L
p.641V>L
missense
missense
SchizophreniaDNM:Gulsuner_2013

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs10994209chr1061877705CLTCL182180.08trans
rs7129622219156708CLTCL1ENSG00000070371.119.252E-70.03122531gtex_brain_ba24
rs7129612219157000CLTCL1ENSG00000070371.119.172E-70.03122239gtex_brain_ba24
rs8076742219158593CLTCL1ENSG00000070371.118.883E-70.03120646gtex_brain_ba24
rs12064712219158756CLTCL1ENSG00000070371.118.883E-70.03120483gtex_brain_ba24
rs28546422219165216CLTCL1ENSG00000070371.118.883E-70.03114023gtex_brain_ba24
rs27930622219167801CLTCL1ENSG00000070371.118.883E-70.03111438gtex_brain_ba24
rs9471092219169332CLTCL1ENSG00000070371.118.883E-70.03109907gtex_brain_ba24
rs9471082219170181CLTCL1ENSG00000070371.111.105E-60.03109058gtex_brain_ba24
rs16334052219171345CLTCL1ENSG00000070371.118.883E-70.03107894gtex_brain_ba24
rs17806412219172321CLTCL1ENSG00000070371.118.883E-70.03106918gtex_brain_ba24
rs17715422219172939CLTCL1ENSG00000070371.118.883E-70.03106300gtex_brain_ba24
rs17715412219173350CLTCL1ENSG00000070371.118.883E-70.03105889gtex_brain_ba24
rs11344782219174524CLTCL1ENSG00000070371.118.883E-70.03104715gtex_brain_ba24
rs16333942219179601CLTCL1ENSG00000070371.119.976E-70.0399638gtex_brain_ba24
rs16333962219181319CLTCL1ENSG00000070371.118.883E-70.0397920gtex_brain_ba24
rs17715472219181473CLTCL1ENSG00000070371.118.883E-70.0397766gtex_brain_ba24
rs9471102219182874CLTCL1ENSG00000070371.118.883E-70.0396365gtex_brain_ba24
rs3701989722219183157CLTCL1ENSG00000070371.118.883E-70.0396082gtex_brain_ba24
rs16333992219183787CLTCL1ENSG00000070371.118.883E-70.0395452gtex_brain_ba24
rs8075502219185056CLTCL1ENSG00000070371.118.883E-70.0394183gtex_brain_ba24
rs8075492219185606CLTCL1ENSG00000070371.118.883E-70.0393633gtex_brain_ba24
rs7129572219187009CLTCL1ENSG00000070371.118.883E-70.0392230gtex_brain_ba24
rs8126602219188078CLTCL1ENSG00000070371.118.883E-70.0391161gtex_brain_ba24
rs16334042219189027CLTCL1ENSG00000070371.118.883E-70.0390212gtex_brain_ba24
rs17806442219192905CLTCL1ENSG00000070371.118.883E-70.0386334gtex_brain_ba24
rs16157512219193263CLTCL1ENSG00000070371.118.883E-70.0385976gtex_brain_ba24
rs7129562219195296CLTCL1ENSG00000070371.118.883E-70.0383943gtex_brain_ba24
rs8075472219195680CLTCL1ENSG00000070371.118.883E-70.0383559gtex_brain_ba24
rs3776195812219196673CLTCL1ENSG00000070371.118.883E-70.0382566gtex_brain_ba24
rs7129552219196680CLTCL1ENSG00000070371.118.883E-70.0382559gtex_brain_ba24
rs7129542219196728CLTCL1ENSG00000070371.118.883E-70.0382511gtex_brain_ba24
rs7129532219196892CLTCL1ENSG00000070371.118.883E-70.0382347gtex_brain_ba24
rs7129522219197949CLTCL1ENSG00000070371.118.883E-70.0381290gtex_brain_ba24
rs7129492219204392CLTCL1ENSG00000070371.119.391E-70.0374847gtex_brain_ba24
rs8074702219204805CLTCL1ENSG00000070371.119.599E-70.0374434gtex_brain_ba24
rs8074722219204897CLTCL1ENSG00000070371.119.391E-70.0374342gtex_brain_ba24
rs8074732219205043CLTCL1ENSG00000070371.111.077E-60.0374196gtex_brain_ba24
rs12065362219205572CLTCL1ENSG00000070371.119.391E-70.0373667gtex_brain_ba24
rs7129472219207763CLTCL1ENSG00000070371.119.4E-70.0371476gtex_brain_ba24
rs7129462219208193CLTCL1ENSG00000070371.119.4E-70.0371046gtex_brain_ba24
rs12065372219209167CLTCL1ENSG00000070371.119.4E-70.0370072gtex_brain_ba24
rs8074602219212655CLTCL1ENSG00000070371.119.417E-70.0366584gtex_brain_ba24
rs8074612219212708CLTCL1ENSG00000070371.119.417E-70.0366531gtex_brain_ba24
.2219214071CLTCL1ENSG00000070371.119.442E-70.0365168gtex_brain_ba24
rs12065452219215560CLTCL1ENSG00000070371.119.662E-70.0363679gtex_brain_ba24
rs12065462219215700CLTCL1ENSG00000070371.119.442E-70.0363539gtex_brain_ba24
rs12065472219215787CLTCL1ENSG00000070371.119.442E-70.0363452gtex_brain_ba24
rs12065482219215836CLTCL1ENSG00000070371.119.662E-70.0363403gtex_brain_ba24
rs12065502219217041CLTCL1ENSG00000070371.119.671E-70.0362198gtex_brain_ba24
rs12065512219217197CLTCL1ENSG00000070371.119.671E-70.0362042gtex_brain_ba24
rs12065522219217764CLTCL1ENSG00000070371.119.671E-70.0361475gtex_brain_ba24
rs12065542219219980CLTCL1ENSG00000070371.119.671E-70.0359259gtex_brain_ba24
.2219222453CLTCL1ENSG00000070371.119.671E-70.0356786gtex_brain_ba24
rs8094162219224115CLTCL1ENSG00000070371.119.671E-70.0355124gtex_brain_ba24
rs8074682219226767CLTCL1ENSG00000070371.119.391E-70.0352472gtex_brain_ba24
rs8074692219227706CLTCL1ENSG00000070371.119.637E-70.0351533gtex_brain_ba24
rs12065552219228943CLTCL1ENSG00000070371.119.637E-70.0350296gtex_brain_ba24
.2219229517CLTCL1ENSG00000070371.119.451E-70.0349722gtex_brain_ba24
rs8074652219232466CLTCL1ENSG00000070371.119.538E-70.0346773gtex_brain_ba24
rs12065412219235804CLTCL1ENSG00000070371.119.628E-70.0343435gtex_brain_ba24
rs28009942219238555CLTCL1ENSG00000070371.119.521E-70.0340684gtex_brain_ba24
rs20963792219239984CLTCL1ENSG00000070371.119.611E-70.0339255gtex_brain_ba24
rs8120882219240861CLTCL1ENSG00000070371.119.611E-70.0338378gtex_brain_ba24
rs8074302219241841CLTCL1ENSG00000070371.119.611E-70.0337398gtex_brain_ba24
rs28009912219244130CLTCL1ENSG00000070371.119.611E-70.0335109gtex_brain_ba24
rs25188652219244161CLTCL1ENSG00000070371.119.611E-70.0335078gtex_brain_ba24
rs3701758432219246937CLTCL1ENSG00000070371.119.493E-70.0332302gtex_brain_ba24
rs8074332219247153CLTCL1ENSG00000070371.119.512E-70.0332086gtex_brain_ba24
rs10910102219247995CLTCL1ENSG00000070371.119.483E-70.0331244gtex_brain_ba24
rs10910122219248551CLTCL1ENSG00000070371.119.466E-70.0330688gtex_brain_ba24
rs25188352219251040CLTCL1ENSG00000070371.111.195E-60.0328199gtex_brain_ba24
rs25188362219251792CLTCL1ENSG00000070371.119.34E-70.0327447gtex_brain_ba24
rs25188372219252270CLTCL1ENSG00000070371.119.237E-70.0326969gtex_brain_ba24
rs27930582219252387CLTCL1ENSG00000070371.119.303E-70.0326852gtex_brain_ba24
rs27930572219252419CLTCL1ENSG00000070371.119.303E-70.0326820gtex_brain_ba24
rs25188522219252527CLTCL1ENSG00000070371.119.303E-70.0326712gtex_brain_ba24
rs25188542219252822CLTCL1ENSG00000070371.119.287E-70.0326417gtex_brain_ba24
rs19369562219253684CLTCL1ENSG00000070371.119.261E-70.0325555gtex_brain_ba24
rs19369552219253899CLTCL1ENSG00000070371.119.245E-70.0325340gtex_brain_ba24
rs731602292219259781CLTCL1ENSG00000070371.118.799E-70.0319458gtex_brain_ba24
rs731602302219259784CLTCL1ENSG00000070371.118.799E-70.0319455gtex_brain_ba24
rs117035012219260578CLTCL1ENSG00000070371.111.735E-60.0318661gtex_brain_ba24
rs455799342219263083CLTCL1ENSG00000070371.118.499E-70.0316156gtex_brain_ba24
rs731602312219263906CLTCL1ENSG00000070371.118.32E-70.0315333gtex_brain_ba24
rs731602332219267923CLTCL1ENSG00000070371.118.171E-70.0311316gtex_brain_ba24
rs119128802219273227CLTCL1ENSG00000070371.117.595E-70.036012gtex_brain_ba24
rs119127262219273370CLTCL1ENSG00000070371.117.583E-70.035869gtex_brain_ba24
rs731602362219275606CLTCL1ENSG00000070371.117.385E-70.033633gtex_brain_ba24
rs81430712219277809CLTCL1ENSG00000070371.119.306E-70.031430gtex_brain_ba24
rs37470612219279221CLTCL1ENSG00000070371.119.011E-70.0318gtex_brain_ba24
rs1126413992219279558CLTCL1ENSG00000070371.118.971E-70.03-319gtex_brain_ba24
rs456189392219280168CLTCL1ENSG00000070371.118.883E-70.03-929gtex_brain_ba24
rs59935742219281255CLTCL1ENSG00000070371.118.883E-70.03-2016gtex_brain_ba24
rs72869482219281411CLTCL1ENSG00000070371.118.883E-70.03-2172gtex_brain_ba24
rs59935762219282854CLTCL1ENSG00000070371.118.883E-70.03-3615gtex_brain_ba24
rs59923872219283478CLTCL1ENSG00000070371.118.883E-70.03-4239gtex_brain_ba24
rs679669112219283871CLTCL1ENSG00000070371.118.258E-70.03-4632gtex_brain_ba24
rs59935772219284517CLTCL1ENSG00000070371.116.283E-70.03-5278gtex_brain_ba24
rs59935782219284808CLTCL1ENSG00000070371.115.823E-70.03-5569gtex_brain_ba24
rs59935792219284832CLTCL1ENSG00000070371.115.795E-70.03-5593gtex_brain_ba24

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0004871signal transducer activityTAS8844170 
GO:0005515protein bindingIEA-
GO:0005198structural molecule activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0009653anatomical structure morphogenesisTAS8733128 
GO:0006898receptor-mediated endocytosisTAS8844170 
GO:0006886intracellular protein transportIEA-
GO:0016192vesicle-mediated transportIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0016020membraneIEA-
GO:0030132clathrin coat of coated pitIEA-
GO:0030130clathrin coat of trans-Golgi network vesicleIEA-
GO:0031410cytoplasmic vesicleIEA-
GO:0030659cytoplasmic vesicle membraneIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG LYSOSOME 12183All SZGR 2.0 genes in this pathway
KEGG ENDOCYTOSIS 183132All SZGR 2.0 genes in this pathway
KEGG HUNTINGTONS DISEASE 185109All SZGR 2.0 genes in this pathway
REACTOME GAP JUNCTION DEGRADATION 108All SZGR 2.0 genes in this pathway
REACTOME MEMBRANE TRAFFICKING 12974All SZGR 2.0 genes in this pathway
REACTOME GAP JUNCTION TRAFFICKING 2719All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 1 UP 380236All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 2 UP 418263All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
MYLLYKANGAS AMPLIFICATION HOT SPOT 22 139All SZGR 2.0 genes in this pathway
SU TESTIS 7653All SZGR 2.0 genes in this pathway
BANDRES RESPONSE TO CARMUSTIN MGMT 48HR UP 1813All SZGR 2.0 genes in this pathway
GRESHOCK CANCER COPY NUMBER UP 323240All SZGR 2.0 genes in this pathway