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mutLBSgeneDB |
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| Gene summary for SUPT4H1 |
 Gene summary |
| Basic gene Info. | Gene symbol | SUPT4H1 |
| Gene name | suppressor of Ty 4 homolog 1 (S. cerevisiae) | |
| Synonyms | SPT4|SPT4H|SUPT4H | |
| Cytomap | UCSC genome browser: 17q22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_003168.2, NR_073470.1, | |
| Description | DRB sensitivity-inducing factor 14 kDa subunitDSIF p14small hSpt4 subunittranscription elongation factor SPT4 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 603555 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000213246 | ||
| HPRD : 16026 | ||
| Vega : OTTHUMG00000178926 | ||
| Protein | UniProt: P63272 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SUPT4H1 | |
| BioGPS: 6827 | ||
| Pathway | NCI Pathway Interaction Database: SUPT4H1 | |
| KEGG: SUPT4H1 | ||
| REACTOME: SUPT4H1 | ||
| Pathway Commons: SUPT4H1 | ||
| Context | iHOP: SUPT4H1 | |
| ligand binding site mutation search in PubMed: SUPT4H1 | ||
| UCL Cancer Institute: SUPT4H1 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | 9450929 | GO:0006368 | transcription elongation from RNA polymerase II promoter | 9450929 | GO:0032785 | negative regulation of DNA-templated transcription, elongation | 9450929 | GO:0032786 | positive regulation of DNA-templated transcription, elongation | 9450929 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 9450929 |
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| Ligand binding site mutations for SUPT4H1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | C36 | A38V | STAD | 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 SUPT4H1 |
| 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 | C36 | A38V | -0.48775373 |
| (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 SUPT4H1 from PDB |
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| Differential gene expression and gene-gene network for SUPT4H1 |
| 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 SUPT4H1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SUPT4H1 |
| 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 SUPT4H1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 3h7h | A | C36 |
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| Conservation information for LBS of SUPT4H1 |
| Multiple alignments for P63272 in multiple species |
| LBS | AA sequence | # species | Species | C16 | RHLRACLLCSL | 4 | Homo sapiens, Bos taurus, Mus musculus, Danio rerio | C16 | RYLRACMVCSI | 1 | Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | C16 | RNLRACLLCSL | 1 | Caenorhabditis elegans | C16 | RGLRACLVCSL | 1 | Drosophila melanogaster | C19 | RACLLCSLVKT | 4 | Homo sapiens, Bos taurus, Mus musculus, Danio rerio | C19 | RACMVCSIVMT | 1 | Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | C19 | RACLLCSLVKS | 1 | Caenorhabditis elegans | C19 | RACLVCSLVKS | 1 | Drosophila melanogaster | C33 | FEYDGCDNCDA | 3 | Homo sapiens, Bos taurus, Mus musculus | C33 | FRDEGCPNCED | 1 | Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | C33 | FQKEGCENCED | 1 | Caenorhabditis elegans | C33 | FETDGCENCEE | 1 | Drosophila melanogaster | C33 | FEYDGCDNCES | 1 | Danio rerio | C36 | DGCDNCDAYLQ | 3 | Homo sapiens, Bos taurus, Mus musculus | C36 | EGCPNCEDFLH | 1 | Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987) | C36 | EGCENCEDVLH | 1 | Caenorhabditis elegans | C36 | DGCENCEEFLR | 1 | Drosophila melanogaster | C36 | DGCDNCESYLQ | 1 | Danio rerio |
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