mutLBSgeneDB |
Gene summary for SCAF8 |
Gene summary |
Basic gene Info. | Gene symbol | SCAF8 |
Gene name | SR-related CTD-associated factor 8 | |
Synonyms | RBM16 | |
Cytomap | UCSC genome browser: 6q25.1-q25.3 | |
Type of gene | protein-coding | |
RefGenes | NM_001286188.1, NM_001286189.1,NM_001286194.1,NM_001286199.1,NM_014892.4, | |
Description | CDC5L complex-associated protein 7RNA-binding motif protein 16SR-like CTD-associated factor 8SR-related and CTD-associated factor 8protein SCAF8 | |
Modification date | 20141207 | |
dbXrefs | MIM : 616024 | |
HGNC : HGNC | ||
Ensembl : ENSG00000213079 | ||
HPRD : 11487 | ||
Vega : OTTHUMG00000015877 | ||
Protein | UniProt: Q9UPN6 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_SCAF8 | |
BioGPS: 22828 | ||
Pathway | NCI Pathway Interaction Database: SCAF8 | |
KEGG: SCAF8 | ||
REACTOME: SCAF8 | ||
Pathway Commons: SCAF8 | ||
Context | iHOP: SCAF8 | |
ligand binding site mutation search in PubMed: SCAF8 | ||
UCL Cancer Institute: SCAF8 | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID |
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Ligand binding site mutations for SCAF8 |
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. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | D67 | D67Y | COAD | 1 | H75 | R74Q | COAD | 1 | M26 | Q28K | LUAD | 1 | M26 | M26I | LUAD | 1 | R112 | I110T | STAD | 1 | H75 | R74Q | UCEC | 1 | S22 | S22L | UCEC | 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 SCAF8 |
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 |
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 | R112 | I110T | -1.4170111 | H75 | R74Q | -0.81207324 | M26 | Q28K | -0.68174724 | D67 | D67Y | -0.48612597 | M26 | M26I | -0.4797668 | S22 | S22L | -0.44897097 |
(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 SCAF8 from PDB |
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Differential gene expression and gene-gene network for SCAF8 |
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 SCAF8 |
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 SCAF8 |
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. |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of SCAF8 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (PRO,SER,TYR,SER,PRO,THR) | 3d9k | A | M26 D67 | III | Peptide ligand (TYR,SER,PRO) | 3d9m | A | M26 D67 | III | Peptide ligand (TYR,SER,PRO) | 3d9p | A | M26 D67 | III | Peptide ligand (BTN,TYR,SER,PRO,THR,SER,PRO,SER,TYR,SER,PRO) | 3d9l | A | M26 D67 H75 R112 | III | Peptide ligand (TYR,SER,PRO,THR,SER,PRO,SER,TYR,SER) | 3d9k | B | M26 D67 R112 | III | Peptide ligand (PRO,SER,TYR,SER,PRO,THR,SER,PRO,SER) | 3d9o | B | S22 M26 D67 | III | Peptide ligand (PRO,SER,TYR,SER,PRO,THR,SER,PRO) | 3d9p | B | S22 M26 D67 | III | Peptide ligand (PRO,SER,TYR,SER,PRO,THR,SER,PRO) | 3d9n | A | S22 M26 D67 H75 | III | Peptide ligand (PRO,SER,TYR,SER,PRO,THR,SER,PRO) | 3d9l | B | S22 M26 D67 R112 | III | Peptide ligand (PRO,SER,TYR,SER,PRO,THR,SER,PRO,SER) | 3d9m | B | S22 M26 D67 R112 | III | Peptide ligand (PRO,SER,TYR,SER,PRO,THR,SER,PRO) | 3d9n | B | S22 M26 D67 R112 |
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Conservation information for LBS of SCAF8 |
Multiple alignments for Q9UPN6 in multiple species |
LBS | AA sequence | # species | Species | D67 | GLYVIDSIVRQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H75 | VRQSRHQFGQE | 2 | Homo sapiens, Mus musculus | H75 | VRQSRHQVGQE | 1 | Rattus norvegicus | I21 | DYKPPISKAKM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K23 | KPPISKAKMTQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K31 | MTQITKAAIKA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L116 | VRVLNLWQKNN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M26 | ISKAKMTQITK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P20 | NDYKPPISKAK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q72 | DSIVRQSRHQF | 2 | Homo sapiens, Mus musculus | Q72 | DSIVRQSRHQV | 1 | Rattus norvegicus | Q76 | RQSRHQFGQEK | 2 | Homo sapiens, Mus musculus | Q76 | RQSRHQVGQEK | 1 | Rattus norvegicus | R112 | KSKIVRVLNLW | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R71 | IDSIVRQSRHQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S22 | YKPPISKAKMT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S68 | LYVIDSIVRQS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V113 | SKIVRVLNLWQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y64 | KVPGLYVIDSI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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