| Variant ID | 64 |
|---|---|
| Entrez Gene ID | 7227 |
| Gene | TRPS1 (GeneCards) |
| Location | hg19 8:116430646-116430646
hg38 8:115418418-115418418 |
| Disease | Trichorhinophalangeal syndrome type1 (view all the variants in this disease) |
| Method | Roche454 |
| Mutation(HGVS format) | NC_000008.10:g.116430646 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 6 |
| Position in protein | 912 |
| Amino acid changes in protein | C > Y |
| Position in cDNA | 2735 |
| Changes in cDNA | G > A |
| mRNA accession | NM_014112.2 |
| mRNA length | 3885 |
| Reference length | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 1454373 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | 1.1663 |
| CADD Raw score (version 1.3) | 5.918933 (Deleterious) |
| FATHMM raw prediction score | 0.92995 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.92 (Deleterious) |
| PROVEAN score | -5.98 (Deleterious) |
| MetaSVM score | 1.473 (Deleterious) |
| MetaLR score | 1 (Deleterious) |
| MCAP score | 0.918 (Deleterious) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.81 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.715 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.081 |
| Deleterious probability by iFish2 | 0.9317 (Deleterious) |
| Deleterious probability by DeFine | 0.9453 (Deleterious) |
| Entrez Gene ID | 7227 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TRPS1 (GeneCards) |
| Number of variants in TRPS1 in this database | 8 (view all the variants) |
| Full name | transcriptional repressor GATA binding 1 |
| Band | 8q23.3 |
| Other IDs | Vega: OTTHUMG00000142829 OMIM: 604386 HGNC: HGNC:12340 Ensembl: ENSG00000104447 |
| Other names | GC79, LGCR |
| Summary | This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008] |
| Individual ID | 23572024.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 23572024 |
| Whose mosaic mutation | Mother |
| Phenotype | 1 |
| Number of affected children | 1 ( male: 1; ) |
| Disease | Trichorhinophalangeal syndrome type1 (view all the variants in this disease) |
| OMIM ID | 190350 |
| Pubmed ID | 23572024 |
|---|---|
| Title | Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling |
| Journal | European Journal of Human Genetics |
| Publication date | 2014.01 |
| Disease | Trichorhinophalangeal syndrome type 1 |
| Number of cases | Female cases: 1; |