|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for FOXP2 |
 Gene summary |
| Basic gene Info. | Gene symbol | FOXP2 |
| Gene name | forkhead box P2 | |
| Synonyms | CAGH44|SPCH1|TNRC10 | |
| Cytomap | UCSC genome browser: 7q31 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001172766.2, NM_001172767.2,NM_014491.3,NM_148898.3,NM_148899.3, NM_148900.3,NR_033766.1,NR_033767.1, | |
| Description | CAG repeat protein 44forkhead box protein P2forkhead/winged-helix transcription factortrinucleotide repeat containing 10trinucleotide repeat-containing gene 10 protein | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 605317 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000128573 | ||
| HPRD : 05611 | ||
| Vega : OTTHUMG00000023131 | ||
| Protein | UniProt: O15409 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_FOXP2 | |
| BioGPS: 93986 | ||
| Pathway | NCI Pathway Interaction Database: FOXP2 | |
| KEGG: FOXP2 | ||
| REACTOME: FOXP2 | ||
| Pathway Commons: FOXP2 | ||
| Context | iHOP: FOXP2 | |
| ligand binding site mutation search in PubMed: FOXP2 | ||
| UCL Cancer Institute: FOXP2 | ||
| 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:0045892 | negative regulation of transcription, DNA-templated | 18987363 |
| Top |
| Ligand binding site mutations for FOXP2 |
| 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 | R543 | R543C | BLCA | 1 | R542,Y540 | F541L | HNSC | 1 | L556,H554 | N555S | LUSC | 1 | R543 | N544I | LUSC | 1 | H559 | H559P | OV | 1 | R327 | R328Q | SKCM | 1 | F507 | P506L | SKCM | 1 | Y509 | Y509D | SKCM | 1 | A539 | T537A | STAD | 1 | R32 | D33N | 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. |
| Top |
| Protein structure related information for FOXP2 |
| 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 | H559 | H559P | -1.1519723 | A539 | T537A | -0.8878537 | R327 | R328Q | -0.77936344 | F507 | P506L | -0.69327023 | Y509 | Y509D | -0.58896128 | R543 | R543C | -0.53981053 | R32 | D33N | -0.52252601 | H554 | N555S | -0.47017164 | L556 | N555S | -0.47017164 | R543 | N544I | -0.14145286 | Y540 | F541L | -0.12351641 | R542 | F541L | -0.12351641 |
| (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 FOXP2 from PDB |
| Top |
| Differential gene expression and gene-gene network for FOXP2 |
| 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) |
| Top |
| Top |
| Phenotype information for FOXP2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0750927 | Developmental verbal dyspraxia | 14 | Biomarker, GeneticVariation |
| umls:C0004352 | Autistic Disorder | 12 | Biomarker, GeneticVariation |
| umls:C0003635 | Apraxias | 3 | Biomarker |
| umls:C0175693 | Silver-Russell Syndrome | 1 | Biomarker |
| umls:C0010606 | Carcinoma, Adenoid Cystic | 1 | Biomarker |
| umls:C0376634 | Craniofacial Abnormalities | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| Pharmacological information for FOXP2 |
| 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 FOXP2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 2a07 | J | A539 R542 | NUC | Nucleic Acids | 2a07 | K | A539 R542 | NUC | Nucleic Acids | 2as5 | F | F507 Y509 | NUC | Nucleic Acids | 2a07 | J | H554 | NUC | Nucleic Acids | 2a07 | K | H554 | NUC | Nucleic Acids | 2as5 | F | H554 | NUC | Nucleic Acids | 2as5 | G | H554 | MG | MAGNESIUM(2+) | 2a07 | F | H559 | MG | MAGNESIUM(2+) | 2a07 | I | H559 | MG | MAGNESIUM(2+) | 2a07 | G | L556 H559 | MG | MAGNESIUM(2+) | 2a07 | H | L556 H559 | MG | MAGNESIUM(2+) | 2a07 | J | L556 H559 | MG | MAGNESIUM(2+) | 2a07 | K | L556 H559 | MG | MAGNESIUM(2+) | 2as5 | F | L556 H559 | MG | MAGNESIUM(2+) | 2as5 | G | L556 H559 | NUC | Nucleic Acids | 2a07 | J | R543 | NUC | Nucleic Acids | 2a07 | K | R543 | NUC | Nucleic Acids | 2a07 | G | Y509 | NUC | Nucleic Acids | 2a07 | H | Y509 | NUC | Nucleic Acids | 2as5 | G | Y509 | NUC | Nucleic Acids | 2a07 | J | Y509 H554 | NUC | Nucleic Acids | 2a07 | K | Y509 H554 | NUC | Nucleic Acids | 2a07 | F | Y540 R543 H554 | NUC | Nucleic Acids | 2a07 | I | Y540 R543 H554 |
| Top |
| Conservation information for LBS of FOXP2 |
| Multiple alignments for O15409 in multiple species |
| LBS | AA sequence | # species | Species | A539 | FTRTFAYFRRN | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | A571 | ENVKGAVWTVD | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | F507 | DVRPPFTYATL | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | F562 | SLHKCFVRVEN | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | H554 | KNAVRHNLSLH | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | H559 | HNLSLHKCFVR | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | K560 | NLSLHKCFVRV | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | L527 | DRQLTLNEIYS | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | L556 | AVRHNLSLHKC | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | L558 | RHNLSLHKCFV | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | N550 | AATWKNAVRHN | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | R32 | LDAGSRDGRSS | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | R327 | SVLNARRDSSS | 2 | Rattus norvegicus, Pan troglodytes | R327 | SVLSARRDSSS | 1 | Homo sapiens | R504 | KNADVRPPFTY | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | R542 | TFAYFRRNAAT | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | R543 | FAYFRRNAATW | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | R553 | WKNAVRHNLSL | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | R564 | HKCFVRVENVK | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | S557 | VRHNLSLHKCF | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | T508 | VRPPFTYATLI | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | T547 | RRNAATWKNAV | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | V503 | YKNADVRPPFT | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | W573 | VKGAVWTVDEV | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | Y509 | RPPFTYATLIR | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | Y531 | TLNEIYSWFTR | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | Y540 | TRTFAYFRRNA | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |