TissGeneSummary for PKHD1 |
Gene summary |
Basic gene information | Gene symbol | PKHD1 |
Gene name | polycystic kidney and hepatic disease 1 (autosomal recessive) | |
Synonyms | ARPKD|FCYT|TIGM1 | |
Cytomap | UCSC genome browser: 6p12.2 | |
Type of gene | protein-coding | |
RefGenes | NM_138694.3, NM_170724.2, | |
Description | TIG multiple domains 1fibrocystinpolycystic kidney and hepatic disease 1 proteinpolyductintigmin | |
Modification date | 20141219 | |
dbXrefs | MIM : 606702 | |
HGNC : HGNC | ||
Ensembl : ENSG00000170927 | ||
HPRD : 05987 | ||
Vega : OTTHUMG00000014841 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_PKHD1 | |
BioGPS: 5314 | ||
Pathway | NCI Pathway Interaction Database: PKHD1 | |
KEGG: PKHD1 | ||
REACTOME: PKHD1 | ||
Pathway Commons: PKHD1 | ||
Context | iHOP: PKHD1 | |
ligand binding site mutation search in PubMed: PKHD1 | ||
UCL Cancer Institute: PKHD1 | ||
Assigned class in TissGDB* | C | |
Included tissue-specific gene expression resources | TiGER,GTEx | |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Kidney | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | KIRC,KIRP,KICH | |
Reference showing the relevant tissue of PKHD1 | ||
Description by TissGene annotations | Cancer gene Have significant anti-correlated miRNA |
* Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO term | PubMed ID |
Top |
TissGeneExp for PKHD1 |
Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
LIHC | 2.427258902 | 4.731460902 | -2.304202 | 8.46E-07 | 4.57E-06 |
KIRC | 6.732347735 | 8.571857458 | -1.839509722 | 7.27E-12 | 2.87E-11 |
KICH | 1.206400902 | 8.403992902 | -7.197592 | 1.75E-13 | 2.38E-12 |
STAD | 0.891998777 | -0.506013723 | 1.3980125 | 0.0154 | 0.048103611 |
KIRP | 7.399176902 | 8.499742527 | -1.100565625 | 0.00211 | 0.005357441 |
Top |
TissGene-miRNA for PKHD1 |
Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
LUAD | hsa-miR-150-5p | MIMAT0000451 | 0.016 | -0.31 | 60 |
Top |
TissGeneMut for PKHD1 |
TissGeneSNV for PKHD1 |
nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.T777M | STAD | 2 |
p.R2714L | LUAD | 2 |
p.D1873Y | UCEC | 2 |
p.S826F | SKCM | 2 |
p.R1081H | STAD | 2 |
p.S3776F | SKCM | 2 |
p.H459Y | SKCM | 2 |
p.P2677L | SKCM | 2 |
p.S132F | SKCM | 2 |
p.E704K | SKCM | 2 |
p.V2514L | LUAD | 1 |
p.M1886V | LUAD | 1 |
p.A1267T | STAD | 1 |
p.R1541K | SKCM | 1 |
p.S1217* | HNSC | 1 |
p.E1045K | UCEC | 1 |
p.R793H | UCEC | 1 |
p.S4043N | CESC | 1 |
p.Q4048P | BRCA | 1 |
p.D1944E | BRCA | 1 |
p.V933I | SKCM | 1 |
p.A2729T | HNSC | 1 |
p.D3230N | UCEC | 1 |
p.D3668V | KIRP | 1 |
p.Y388C | COAD | 1 |
p.V2913L | COAD | 1 |
p.L2679V | CESC | 1 |
p.E2148* | SARC | 1 |
p.S1066L | THCA | 1 |
p.M2173I | LUAD | 1 |
p.S1458F | SKCM | 1 |
p.G1971S | LUSC | 1 |
p.A2521S | OV | 1 |
p.T36M | PRAD | 1 |
p.R1909W | STAD | 1 |
p.R3913C | GBM | 1 |
p.E2001K | UCEC | 1 |
p.S2627F | HNSC | 1 |
p.G634D | SKCM | 1 |
p.N2509H | UCEC | 1 |
p.A1987T | CESC | 1 |
p.S3718* | BLCA | 1 |
p.G1558E | SKCM | 1 |
p.E2915K | UCEC | 1 |
p.I3042T | PRAD | 1 |
p.N1135K | ESCA | 1 |
p.W646X | SKCM | 1 |
p.E3502V | KIRP | 1 |
p.S1727L | BLCA | 1 |
p.G112V | LUAD | 1 |
p.R1926L | LUAD | 1 |
p.R723H | KIRC | 1 |
p.R2955Q | UCEC | 1 |
p.R880L | LUAD | 1 |
p.L1989F | GBM | 1 |
p.R3482C | READ | 1 |
p.D912Y | COAD | 1 |
p.I2523V | COAD | 1 |
p.G369R | SKCM | 1 |
p.R1723T | KIRP | 1 |
p.E3391* | STAD | 1 |
p.N2300S | SARC | 1 |
p.T1958S | BLCA | 1 |
p.S3718L | BLCA | 1 |
p.V1181F | LGG | 1 |
p.P3845Q | LUAD | 1 |
p.E2746K | BLCA | 1 |
p.I4070V | UCEC | 1 |
p.P1451A | CHOL | 1 |
p.W646* | SKCM | 1 |
p.K2450R | LGG | 1 |
p.E3162D | READ | 1 |
p.E1025* | SKCM | 1 |
p.R2181S | LUAD | 1 |
p.Q807K | STAD | 1 |
p.F3153L | PRAD | 1 |
p.D2424Y | STAD | 1 |
p.L3127F | STAD | 1 |
p.L3053V | ESCA | 1 |
p.K2856N | STAD | 1 |
p.I194M | LUSC | 1 |
p.R564Q | SKCM | 1 |
p.F2516L | UCEC | 1 |
p.L3503P | GBM | 1 |
p.P2778S | LGG | 1 |
p.P2462H | STAD | 1 |
p.G1218X | READ | 1 |
p.P3762S | SKCM | 1 |
p.H3599L | SKCM | 1 |
p.L859M | LIHC | 1 |
p.L2178V | LUSC | 1 |
p.R3240Q | UCEC | 1 |
p.E3054D | PRAD | 1 |
p.V1990I | SKCM | 1 |
p.S3113Y | LUSC | 1 |
p.G3918E | SKCM | 1 |
p.D662V | LUAD | 1 |
p.P1258R | LIHC | 1 |
p.I2539T | LIHC | 1 |
p.R2979Q | PAAD | 1 |
p.G2310E | SKCM | 1 |
p.Q3397L | ACC | 1 |
p.S1236Y | LUSC | 1 |
p.P1355S | HNSC | 1 |
p.S1534T | HNSC | 1 |
p.G1951S | BLCA | 1 |
p.L1334P | LUSC | 1 |
p.I277M | BLCA | 1 |
p.Q1611H | UCEC | 1 |
p.V2429I | SARC | 1 |
p.E2309K | COAD | 1 |
p.A3497V | LIHC | 1 |
p.G2184V | ACC | 1 |
p.V79F | SKCM | 1 |
p.Q3941K | SKCM | 1 |
p.R2634K | UCEC | 1 |
p.N2257T | UCEC | 1 |
p.R3913H | ESCA | 1 |
p.F3006L | CESC | 1 |
p.S1562F | BLCA | 1 |
p.R488Q | ESCA | 1 |
p.R2536I | READ | 1 |
p.S1844F | SKCM | 1 |
p.L3495F | SKCM | 1 |
p.V1302I | LUAD | 1 |
p.W3576R | LUAD | 1 |
p.G1497E | LUAD | 1 |
p.S4035N | SKCM | 1 |
p.L1837I | LUSC | 1 |
p.L3496W | OV | 1 |
p.V2805I | MESO | 1 |
p.L1096I | BLCA | 1 |
p.T3142N | LUAD | 1 |
p.R2891C | THCA | 1 |
p.I2523L | UCEC | 1 |
p.S2180Y | LUSC | 1 |
p.F2780L | STAD | 1 |
p.R994W | HNSC | 1 |
p.A243T | COAD | 1 |
p.V2963I | STAD | 1 |
p.R669H | SKCM | 1 |
p.F2779L | UCEC | 1 |
p.K2976R | KIRC | 1 |
p.A1062T | STAD | 1 |
p.S3867C | BLCA | 1 |
p.L3563V | STAD | 1 |
p.S3286R | STAD | 1 |
p.M3400T | LUSC | 1 |
p.P2024L | LUSC | 1 |
p.K3856T | STAD | 1 |
p.G619S | LUSC | 1 |
p.G1034V | PAAD | 1 |
p.A3793E | STAD | 1 |
p.Q225H | LUAD | 1 |
p.I3462V | LUAD | 1 |
p.G2294E | UCEC | 1 |
p.N1016H | COAD | 1 |
p.M1373I | LUAD | 1 |
p.I3595M | HNSC | 1 |
p.I2324M | LUAD | 1 |
p.V2853D | BRCA | 1 |
p.L3415F | DLBC | 1 |
p.V2330A | UCEC | 1 |
p.L4044V | UCEC | 1 |
p.E3605K | BLCA | 1 |
p.V806A | LIHC | 1 |
p.P3892S | UCEC | 1 |
p.A1279T | LUAD | 1 |
p.T441S | LUAD | 1 |
p.V2397F | UCEC | 1 |
p.S1400L | HNSC | 1 |
p.R606P | LUSC | 1 |
p.P738S | SKCM | 1 |
p.A722T | LUAD | 1 |
p.A2515V | STAD | 1 |
p.G466W | LUAD | 1 |
p.D1424H | OV | 1 |
p.E2821G | READ | 1 |
p.V1990G | SKCM | 1 |
p.A134V | GBM | 1 |
p.S1042F | LUSC | 1 |
p.V1409L | LUAD | 1 |
p.A462T | LUAD | 1 |
p.R1115K | LUAD | 1 |
p.T2938M | LUAD | 1 |
p.L3481F | LIHC | 1 |
p.T710S | HNSC | 1 |
p.V3206L | ACC | 1 |
p.C2368F | LUAD | 1 |
p.M1134I | SKCM | 1 |
p.R3842X | READ | 1 |
p.Q370K | LUAD | 1 |
p.V1269L | LUAD | 1 |
p.L1190F | THCA | 1 |
p.G698S | KIRP | 1 |
p.E1949G | LUAD | 1 |
p.L1963F | SKCM | 1 |
p.P2004L | KIRC | 1 |
p.D3808H | BRCA | 1 |
p.G2403C | HNSC | 1 |
p.R2926Q | CESC | 1 |
p.E2621D | UCEC | 1 |
p.S3977F | HNSC | 1 |
p.S3492A | LUAD | 1 |
p.G1597C | COAD | 1 |
p.S259* | BLCA | 1 |
p.D170N | HNSC | 1 |
p.A1681E | PRAD | 1 |
p.R3482C | ESCA | 1 |
p.G55D | HNSC | 1 |
p.H216N | KIRC | 1 |
p.P1707S | SKCM | 1 |
p.L3865Q | GBM | 1 |
p.R3914* | GBM | 1 |
p.D251N | SKCM | 1 |
p.C1204R | LGG | 1 |
p.S1222N | UCEC | 1 |
p.E1594K | LUAD | 1 |
p.R781* | SKCM | 1 |
p.I2283V | UCEC | 1 |
p.E3251* | LUAD | 1 |
p.Q4071R | LUAD | 1 |
p.F582L | ACC | 1 |
p.G1474R | SKCM | 1 |
p.E1482V | SKCM | 1 |
p.S3646P | SKCM | 1 |
p.E2746V | BLCA | 1 |
p.S1400L | COAD | 1 |
p.V2897I | LAML | 1 |
p.V3818F | LUSC | 1 |
p.S1285N | DLBC | 1 |
p.S98F | PAAD | 1 |
p.S2934I | PRAD | 1 |
p.P3987A | GBM | 1 |
p.E2309K | DLBC | 1 |
p.S1678* | UCEC | 1 |
p.S2964L | SKCM | 1 |
p.G2918D | LUAD | 1 |
p.K2460* | SKCM | 1 |
p.F1221L | CESC | 1 |
p.R2714W | THYM | 1 |
p.V88M | HNSC | 1 |
p.V1127A | UCEC | 1 |
p.H3109N | LUAD | 1 |
p.S1182R | THYM | 1 |
p.A1037D | STAD | 1 |
p.N3063K | LUAD | 1 |
p.S3492F | SKCM | 1 |
p.A2729G | ACC | 1 |
p.G2333_splice | LUSC | 1 |
p.T1251N | GBM | 1 |
p.L3495F | LUAD | 1 |
p.G315E | SKCM | 1 |
p.P2327H | THYM | 1 |
p.Q1256K | SKCM | 1 |
p.R592* | ACC | 1 |
p.G1449D | SKCM | 1 |
p.V2935L | UCEC | 1 |
p.G2951R | LUSC | 1 |
p.R3482H | PRAD | 1 |
p.R3240Q | UCS | 1 |
p.R564* | CHOL | 1 |
p.L4044V | OV | 1 |
p.F3153L | KIRC | 1 |
p.G2310R | SKCM | 1 |
p.E765K | SKCM | 1 |
p.G725V | LUAD | 1 |
p.G1587D | UCEC | 1 |
p.Q1539H | LUAD | 1 |
p.V65M | MESO | 1 |
p.M2455V | READ | 1 |
p.H3267N | BLCA | 1 |
p.A1729S | LUSC | 1 |
p.R2945H | COAD | 1 |
p.A601T | UCEC | 1 |
p.K2085N | KIRC | 1 |
p.M3400I | LUSC | 1 |
p.N977D | LIHC | 1 |
p.W391* | HNSC | 1 |
p.V302M | KIRC | 1 |
p.R3615K | BLCA | 1 |
p.R1624W | GBM | 1 |
p.D3321Y | COAD | 1 |
p.A1711T | STAD | 1 |
p.E1197D | STAD | 1 |
p.S3794A | SKCM | 1 |
p.P190L | SKCM | 1 |
p.T1742M | STAD | 1 |
p.E1309* | UCEC | 1 |
p.S1633F | SKCM | 1 |
p.R880H | THYM | 1 |
p.P3783R | LGG | 1 |
p.G2073V | PRAD | 1 |
p.V712L | OV | 1 |
p.L478M | SARC | 1 |
p.F380C | KIRP | 1 |
p.Q393* | LUSC | 1 |
p.E3529K | SKCM | 1 |
p.P1097L | SKCM | 1 |
p.R3842* | SKCM | 1 |
p.Q2405K | KIRP | 1 |
p.P2778L | SKCM | 1 |
p.T849N | GBM | 1 |
p.V139I | GBM | 1 |
p.Q504E | LUAD | 1 |
p.G1437R | LUAD | 1 |
p.G2748C | KICH | 1 |
p.S1056W | LUSC | 1 |
p.V2189A | LUAD | 1 |
p.R669H | GBM | 1 |
p.S2306F | BLCA | 1 |
p.P3221L | SARC | 1 |
p.A748E | STAD | 1 |
p.E4004G | STAD | 1 |
p.L3179F | SKCM | 1 |
p.D3266Y | STAD | 1 |
p.P918Q | THYM | 1 |
p.A3224D | LUSC | 1 |
p.L213P | PRAD | 1 |
p.S1353C | BRCA | 1 |
p.D125E | LUSC | 1 |
p.G3676E | GBM | 1 |
p.P3896T | LUSC | 1 |
p.K2460Q | COAD | 1 |
p.I3909M | LIHC | 1 |
p.Y350F | HNSC | 1 |
p.D3230H | LUAD | 1 |
p.V595F | LIHC | 1 |
p.E3391X | STAD | 1 |
p.R3556H | BRCA | 1 |
p.E3656K | SKCM | 1 |
p.W2280* | SKCM | 1 |
p.E2980* | PAAD | 1 |
p.E1244K | SKCM | 1 |
p.I3106F | LUAD | 1 |
p.A3011T | STAD | 1 |
p.A3207V | TGCT | 1 |
p.V2236M | PAAD | 1 |
p.I3394L | KIRP | 1 |
p.H3944R | STAD | 1 |
p.D317Y | READ | 1 |
p.S3234F | SKCM | 1 |
p.P81L | SKCM | 1 |
p.G2307S | GBM | 1 |
p.A2130T | READ | 1 |
p.D912N | HNSC | 1 |
p.P27H | LUSC | 1 |
p.S2017F | LUAD | 1 |
p.E2821G | STAD | 1 |
p.T275K | ESCA | 1 |
p.N1602H | LGG | 1 |
p.H3647Y | SKCM | 1 |
p.E769D | UCEC | 1 |
p.D3321H | BLCA | 1 |
p.P1762Q | COAD | 1 |
p.K640N | READ | 1 |
p.K2917E | STAD | 1 |
p.R3914* | SKCM | 1 |
p.W1725L | LUAD | 1 |
p.I3590V | BLCA | 1 |
p.G1712W | LUAD | 1 |
p.T1742M | COAD | 1 |
p.I2883V | STAD | 1 |
p.R3842X | SKCM | 1 |
p.L193F | LUAD | 1 |
p.G1010R | SKCM | 1 |
p.A1260V | KIRP | 1 |
p.P989L | SKCM | 1 |
p.E563K | SKCM | 1 |
p.V3043L | LGG | 1 |
p.V3193I | READ | 1 |
p.L1983R | COAD | 1 |
p.D1957G | BLCA | 1 |
p.G3532D | SKCM | 1 |
p.K3324N | LUSC | 1 |
p.S4047F | SKCM | 1 |
p.S3718P | LIHC | 1 |
p.V3634I | ACC | 1 |
p.R3913C | STAD | 1 |
p.P724T | COAD | 1 |
p.A1987T | GBM | 1 |
p.F3212S | BLCA | 1 |
p.P3328S | SKCM | 1 |
p.S3787L | SKCM | 1 |
p.G3045D | COAD | 1 |
p.Y610N | ACC | 1 |
p.M3068I | CESC | 1 |
p.I1082V | LGG | 1 |
p.H2520N | CESC | 1 |
p.V419I | READ | 1 |
p.S1426* | LUSC | 1 |
p.R2413H | UCEC | 1 |
p.I3042V | LUAD | 1 |
p.P1900S | UCEC | 1 |
p.A1890E | LUAD | 1 |
p.A1005D | LUSC | 1 |
p.F671L | LUAD | 1 |
p.R3333_splice | GBM | 1 |
p.W1248* | HNSC | 1 |
p.L1106I | LGG | 1 |
p.H533Q | LUAD | 1 |
p.L3275P | STAD | 1 |
p.S3570L | LUAD | 1 |
p.G1467R | SKCM | 1 |
p.A2579V | PRAD | 1 |
p.A878G | LUSC | 1 |
p.P463T | UCEC | 1 |
p.E3995D | READ | 1 |
p.F2259L | LUSC | 1 |
p.K640N | PRAD | 1 |
p.S3833F | ESCA | 1 |
p.P3762Q | LGG | 1 |
p.A3564V | SKCM | 1 |
p.R1927S | LIHC | 1 |
p.P786S | STAD | 1 |
p.D43N | HNSC | 1 |
p.S3443G | BLCA | 1 |
p.Y452N | LIHC | 1 |
p.S1856* | LUSC | 1 |
p.H3124N | BLCA | 1 |
p.I3414S | STAD | 1 |
p.E2915* | UCEC | 1 |
p.G952E | SKCM | 1 |
p.V2236L | PCPG | 1 |
p.G1187E | STAD | 1 |
p.G1801C | STAD | 1 |
p.N2363I | LUAD | 1 |
p.P3850S | LUAD | 1 |
p.I3538S | STAD | 1 |
p.Q716E | BLCA | 1 |
p.S1551* | UCS | 1 |
p.G3809C | LUAD | 1 |
p.T777M | HNSC | 1 |
p.G2566X | COAD | 1 |
p.R669C | COAD | 1 |
p.S2219L | SKCM | 1 |
p.G3027S | COAD | 1 |
p.L3689X | READ | 1 |
p.F4060L | BLCA | 1 |
p.D2069Y | LUAD | 1 |
p.A1268D | LUSC | 1 |
p.L1015I | ACC | 1 |
p.W2290S | LGG | 1 |
p.Y2650C | UCEC | 1 |
p.N3090I | KIRP | 1 |
p.R1223S | LUAD | 1 |
p.W3260X | COAD | 1 |
p.G349R | HNSC | 1 |
p.D1542A | LIHC | 1 |
p.V1716I | HNSC | 1 |
p.Q3504H | BRCA | 1 |
p.M1825T | STAD | 1 |
p.E3391K | UCS | 1 |
p.R994Q | UCEC | 1 |
p.S228I | LUAD | 1 |
p.L2871I | UCEC | 1 |
p.V1903F | BLCA | 1 |
p.H2520N | THYM | 1 |
p.R3961G | LUAD | 1 |
p.R3350G | LIHC | 1 |
p.K411N | KIRP | 1 |
p.R994W | SKCM | 1 |
p.L252V | HNSC | 1 |
p.P875A | OV | 1 |
p.N3940Y | BRCA | 1 |
p.G942R | LUSC | 1 |
p.G919V | LUAD | 1 |
p.L3485I | COAD | 1 |
p.G2941S | LUSC | 1 |
p.A3376S | KIRC | 1 |
p.G766E | SKCM | 1 |
p.P3845T | LUAD | 1 |
p.E1891K | BLCA | 1 |
p.D251N | BRCA | 1 |
p.R2573L | COAD | 1 |
p.R2955L | HNSC | 1 |
p.V239G | STAD | 1 |
p.E3135K | UCEC | 1 |
p.G2707C | CESC | 1 |
p.S1783F | BLCA | 1 |
p.P2109T | STAD | 1 |
p.P3365T | THYM | 1 |
p.V1903I | HNSC | 1 |
p.A1297V | LUAD | 1 |
p.D1942N | BLCA | 1 |
p.N226H | UCEC | 1 |
p.Q3425H | SKCM | 1 |
p.S1236F | SKCM | 1 |
p.I3959V | PRAD | 1 |
p.R2945H | UCEC | 1 |
p.E769D | KIRP | 1 |
p.R3482C | UCS | 1 |
p.E2980X | PAAD | 1 |
p.E3582K | UCEC | 1 |
p.W852* | SKCM | 1 |
p.Q3056L | LIHC | 1 |
p.E1907D | READ | 1 |
p.V933F | ACC | 1 |
p.H2845N | LUAD | 1 |
p.N3152T | HNSC | 1 |
p.G3511V | LUAD | 1 |
p.Q902K | LUAD | 1 |
p.L557I | CESC | 1 |
p.E3582K | LUSC | 1 |
p.I3144T | HNSC | 1 |
p.S1566F | SKCM | 1 |
p.R3240* | SKCM | 1 |
p.H3049R | UCEC | 1 |
p.C3405* | LUSC | 1 |
p.G199E | SKCM | 1 |
p.R3620C | SARC | 1 |
p.K1072Q | OV | 1 |
p.S922C | BLCA | 1 |
p.P480T | HNSC | 1 |
p.E2075K | HNSC | 1 |
p.S2367F | HNSC | 1 |
p.S2867F | KIRC | 1 |
p.D1138E | LUAD | 1 |
p.P442S | SKCM | 1 |
p.F700L | KIRC | 1 |
p.R3853K | SKCM | 1 |
p.R1020I | LUAD | 1 |
p.P203S | SKCM | 1 |
p.T2850K | THCA | 1 |
p.R592X | ACC | 1 |
p.L2679I | READ | 1 |
p.R564X | CHOL | 1 |
p.A3712T | READ | 1 |
p.W2280X | SKCM | 1 |
p.R3637H | UCEC | 1 |
p.P2072H | GBM | 1 |
p.S3875R | BLCA | 1 |
p.N901K | LUAD | 1 |
p.R1624Q | BLCA | 1 |
p.M3539I | HNSC | 1 |
p.K2781E | KIRC | 1 |
p.G952* | LUAD | 1 |
p.G4013R | LUSC | 1 |
p.L84F | LUAD | 1 |
p.V2223L | LUSC | 1 |
p.R559Q | READ | 1 |
p.R3772Q | TGCT | 1 |
p.I1120T | HNSC | 1 |
p.R589H | STAD | 1 |
p.Q984K | THYM | 1 |
p.A1987T | UCEC | 1 |
p.V1518L | LUAD | 1 |
p.V2076F | READ | 1 |
p.I246V | LUSC | 1 |
p.Q1307R | LIHC | 1 |
p.P3834S | LUSC | 1 |
p.W158X | THYM | 1 |
p.F80S | GBM | 1 |
p.L2651P | KIRP | 1 |
p.S1283P | SKCM | 1 |
p.G2849* | LUSC | 1 |
p.R2298* | HNSC | 1 |
p.M2348I | LUAD | 1 |
p.E3554K | SKCM | 1 |
p.R2769I | UCEC | 1 |
p.C1800Y | COAD | 1 |
p.A1510V | LGG | 1 |
p.W3255R | STAD | 1 |
p.R1997Q | READ | 1 |
p.R2979* | UCEC | 1 |
p.C1625Y | SKCM | 1 |
p.R3237I | UCEC | 1 |
p.L2540V | HNSC | 1 |
p.G736E | SKCM | 1 |
p.R1804H | OV | 1 |
p.A2579E | ACC | 1 |
p.G2210R | LUAD | 1 |
p.D822N | GBM | 1 |
p.R585K | SKCM | 1 |
p.G2997R | UCEC | 1 |
p.Q687E | LUSC | 1 |
p.R1235Q | UCEC | 1 |
p.M2614V | LUAD | 1 |
p.S1534N | STAD | 1 |
p.E3928K | UCEC | 1 |
p.I1192F | SARC | 1 |
p.K3921Q | LUAD | 1 |
p.V1328D | LUAD | 1 |
p.A2887T | COAD | 1 |
p.M997L | ACC | 1 |
p.P119L | HNSC | 1 |
p.E108K | SKCM | 1 |
p.F3766C | STAD | 1 |
p.R2926W | COAD | 1 |
p.S3223X | KIRC | 1 |
p.S2694R | LUAD | 1 |
p.I204F | LUAD | 1 |
p.D958Y | LIHC | 1 |
p.P3236A | HNSC | 1 |
p.3589_3590QI>HV | BLCA | 1 |
p.S1551X | UCS | 1 |
p.V3579A | STAD | 1 |
p.I2331L | KIRP | 1 |
p.V3004L | LUSC | 1 |
p.G1041D | SKCM | 1 |
p.R2891H | SARC | 1 |
p.V1552A | COAD | 1 |
p.Q3197H | HNSC | 1 |
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TissGeneCNV for PKHD1 |
Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
Top |
TissGeneFusions for PKHD1 |
Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
Chimerdb3.0 | FusionScan | PRAD | TCGA-EJ-7782-01A | PKHD1-CAGE1 | Out-of-Frame | chr6:51875106 | chr6:7334323 |
TCGAfusionPortal | PRADA | KIRC | TCGA-A3-3313-01A | PKHD1-RCAN2 | Out-of-frame | Chr6:51695659 | Chr6:46216633 |
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TissGeneNet for PKHD1 |
Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
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TissGeneProg for PKHD1 |
Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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TissGeneClin for PKHD1 |
TissGeneDrug for PKHD1 |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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TissGeneDisease for PKHD1 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0085548 | Autosomal Recessive Polycystic Kidney Disease | 66 | BeFree,CLINVAR,CTD_human,LHGDN,MGD,ORPHANET,RGD,UNIPROT |
umls:C0022680 | Polycystic Kidney Diseases | 14 | BeFree,GAD,LHGDN |
umls:C1567435 | Polycystic Kidney - body part | 7 | BeFree |
umls:C0268800 | Simple renal cyst | 5 | BeFree |
umls:C0000768 | Congenital Abnormality | 4 | BeFree |
umls:C0009714 | Hepatic Fibrosis, Congenital | 4 | BeFree |
umls:C0085413 | Polycystic Kidney, Autosomal Dominant | 4 | BeFree |
umls:C0010709 | Cyst | 2 | BeFree,LHGDN |
umls:C0023895 | Liver diseases | 2 | BeFree |
umls:C0002736 | Amyotrophic Lateral Sclerosis | 1 | GAD |
umls:C0009402 | Colorectal Carcinoma | 1 | BeFree |
umls:C0009404 | Colorectal Neoplasms | 1 | BeFree |
umls:C0018802 | Congestive heart failure | 1 | BeFree |
umls:C0020538 | Hypertensive disease | 1 | BeFree |
umls:C0022658 | Kidney Diseases | 1 | BeFree |
umls:C0029925 | Ovarian Carcinoma | 1 | BeFree |
umls:C0035078 | Kidney Failure | 1 | BeFree |
umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
umls:C0162510 | Caroli Disease | 1 | BeFree |
umls:C0267818 | Bile duct proliferation | 1 | BeFree |
umls:C0267834 | Liver cyst | 1 | BeFree |
umls:C0339573 | Glaucoma, Primary Open Angle | 1 | BeFree |
umls:C0376358 | Malignant neoplasm of prostate | 1 | GAD |
umls:C0431716 | Nephronophthisis - medullary cystic disease | 1 | BeFree |
umls:C0442872 | Multiple cysts | 1 | BeFree |
umls:C0595921 | Intraocular pressure disorder | 1 | GWASCAT |
umls:C0596263 | Carcinogenesis | 1 | BeFree |
umls:C1140680 | Malignant neoplasm of ovary | 1 | BeFree |
umls:C1319315 | Adenocarcinoma of large intestine | 1 | BeFree |
umls:C1527249 | Colorectal Cancer | 1 | BeFree |
umls:C2911645 | Weight Loss Adverse Event | 1 | GWASCAT |
umls:C3150344 | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | 0 | CLINVAR |