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mutLBSgeneDB |
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| Gene summary for SRY |
 Gene summary |
| Basic gene Info. | Gene symbol | SRY |
| Gene name | sex determining region Y | |
| Synonyms | SRXX1|SRXY1|TDF|TDY | |
| Cytomap | UCSC genome browser: Yp11.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_003140.2, | |
| Description | essential protein for sex determination in human malessex determining region Y proteinsex-determining region Y proteinsex-determining region on Ytestis-determining factor on Y | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 480000 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000184895 | ||
| HPRD : 08364 | ||
| Vega : OTTHUMG00000036084 | ||
| Protein | UniProt: Q05066 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SRY | |
| BioGPS: 6736 | ||
| Pathway | NCI Pathway Interaction Database: SRY | |
| KEGG: SRY | ||
| REACTOME: SRY | ||
| Pathway Commons: SRY | ||
| Context | iHOP: SRY | |
| ligand binding site mutation search in PubMed: SRY | ||
| UCL Cancer Institute: SRY | ||
| Assigned class in mutLBSgeneDB | A: This gene has a literature evidence and it belongs to targetable_mutLBSgenes. | |
| References showing study about ligand binding site mutation for SRY. | 1. "Bolzon C, Joonè CJ, Schulman ML, Harper CK, Villagómez DA, King WA, Révay T. Missense Mutation in the Ligand-Binding Domain of the Horse Androgen Receptor Gene in a Thoroughbred Family with Inherited 64,XY (SRY+) Disorder of Sex Development. Sex Dev. 2016;10(1):37-44. doi: 10.1159/000444991. Epub 2016 Apr 14." 27073903 | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006357 | regulation of transcription from RNA polymerase II promoter | 21412441 | GO:0006366 | transcription from RNA polymerase II promoter | 21412441 | GO:0045893 | positive regulation of transcription, DNA-templated | 21412441 | GO:2000020 | positive regulation of male gonad development | 21412441 |
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| Ligand binding site mutations for SRY |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R86 | R86Q | SKCM | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for SRY |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | R86 | R86Q | -1.006487 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for SRY from PDB |
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| Differential gene expression and gene-gene network for SRY |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for SRY |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C2748896 | 46,Xy Gonadal Dysgenesis, Complete, Sry-Related | 22 | Biomarker, GeneticVariation |
| umls:C2748895 | Ovotesticular Disorders of Sex Development | 5 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SRY |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of SRY go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of SRY |
| Multiple alignments for Q05066 in multiple species |
| LBS | AA sequence | # species | Species | F110 | EKWPFFQEAQK | 2 | Homo sapiens, Pan troglodytes | F110 | EKRPFFEEAQR | 1 | Bos taurus | F67 | RPMNAFIVWSR | 2 | Homo sapiens, Bos taurus | F67 | RPMNAFFVWSR | 1 | Pan troglodytes | G95 | ISKQLGYQWKM | 2 | Homo sapiens, Pan troglodytes | G95 | ISKQLGYEWKR | 1 | Bos taurus | I68 | PMNAFIVWSRD | 1 | Homo sapiens | I68 | PMNAFIVWSRE | 1 | Bos taurus | I68 | PMNAFFVWSRD | 1 | Pan troglodytes | K106 | LTEAEKWPFFQ | 2 | Homo sapiens, Pan troglodytes | K106 | LTDAEKRPFFE | 1 | Bos taurus | K128 | KYPNYKYRPRR | 2 | Homo sapiens, Pan troglodytes | K128 | KYPGYKYRPRR | 1 | Bos taurus | K134 | YRPRRKAKMLP | 1 | Homo sapiens | K134 | YRPRRRAKRPQ | 1 | Bos taurus | K134 | YRPRRKANMLP | 1 | Pan troglodytes | K136 | PRRKAKMLPKN | 1 | Homo sapiens | K136 | PRRRAKRPQKS | 1 | Bos taurus | K136 | PRRKANMLPKN | 1 | Pan troglodytes | K61 | VQDRVKRPMNA | 2 | Homo sapiens, Pan troglodytes | K61 | SQDHVKRPMNA | 1 | Bos taurus | K92 | NSEISKQLGYQ | 2 | Homo sapiens, Pan troglodytes | K92 | NSDISKQLGYE | 1 | Bos taurus | K99 | LGYQWKMLTEA | 2 | Homo sapiens, Pan troglodytes | K99 | LGYEWKRLTDA | 1 | Bos taurus | M64 | RVKRPMNAFIV | 1 | Homo sapiens | M64 | HVKRPMNAFIV | 1 | Bos taurus | M64 | RVKRPMNAFFV | 1 | Pan troglodytes | M85 | LENPRMRNSEI | 2 | Homo sapiens, Pan troglodytes | M85 | LENPKMKNSDI | 1 | Bos taurus | N65 | VKRPMNAFIVW | 2 | Homo sapiens, Bos taurus | N65 | VKRPMNAFFVW | 1 | Pan troglodytes | N87 | NPRMRNSEISK | 2 | Homo sapiens, Pan troglodytes | N87 | NPKMKNSDISK | 1 | Bos taurus | P131 | NYKYRPRRKAK | 1 | Homo sapiens | P131 | GYKYRPRRRAK | 1 | Bos taurus | P131 | NYKYRPRRKAN | 1 | Pan troglodytes | P83 | MALENPRMRNS | 2 | Homo sapiens, Pan troglodytes | P83 | VALENPKMKNS | 1 | Bos taurus | Q117 | EAQKLQAMHRE | 2 | Homo sapiens, Pan troglodytes | Q117 | EAQRLLAIHRD | 1 | Bos taurus | R121 | LQAMHREKYPN | 2 | Homo sapiens, Pan troglodytes | R121 | LLAIHRDKYPG | 1 | Bos taurus | R132 | YKYRPRRKAKM | 1 | Homo sapiens | R132 | YKYRPRRRAKR | 1 | Bos taurus | R132 | YKYRPRRKANM | 1 | Pan troglodytes | R133 | KYRPRRKAKML | 1 | Homo sapiens | R133 | KYRPRRRAKRP | 1 | Bos taurus | R133 | KYRPRRKANML | 1 | Pan troglodytes | R59 | GNVQDRVKRPM | 1 | Homo sapiens | R59 | ESSQDHVKRPM | 1 | Bos taurus | R59 | DSVQDRVKRPM | 1 | Pan troglodytes | R62 | QDRVKRPMNAF | 2 | Homo sapiens, Pan troglodytes | R62 | QDHVKRPMNAF | 1 | Bos taurus | R72 | FIVWSRDQRRK | 1 | Homo sapiens | R72 | FIVWSRERRRK | 1 | Bos taurus | R72 | FFVWSRDQRRK | 1 | Pan troglodytes | R75 | WSRDQRRKMAL | 2 | Homo sapiens, Pan troglodytes | R75 | WSRERRRKVAL | 1 | Bos taurus | R76 | SRDQRRKMALE | 2 | Homo sapiens, Pan troglodytes | R76 | SRERRRKVALE | 1 | Bos taurus | R86 | ENPRMRNSEIS | 2 | Homo sapiens, Pan troglodytes | R86 | ENPKMKNSDIS | 1 | Bos taurus | S88 | PRMRNSEISKQ | 2 | Homo sapiens, Pan troglodytes | S88 | PKMKNSDISKQ | 1 | Bos taurus | S91 | RNSEISKQLGY | 2 | Homo sapiens, Pan troglodytes | S91 | KNSDISKQLGY | 1 | Bos taurus | W98 | QLGYQWKMLTE | 2 | Homo sapiens, Pan troglodytes | W98 | QLGYEWKRLTD | 1 | Bos taurus | Y129 | YPNYKYRPRRK | 2 | Homo sapiens, Pan troglodytes | Y129 | YPGYKYRPRRR | 1 | Bos taurus |
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