TTC7A |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- TTC7A (HGNC:19750) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- tetratricopeptide repeat domain 7A
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- TTC7
- Alias symbols
- KIAA1140
- %HI
- 45.91(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.2(Read more about gnomAD LOEUF score)
- Cytoband
- 2p21
- Genomic Coordinates
-
GRCh37/hg19: chr2:47143005-47303262 NCBI Ensembl UCSC GRCh38/hg38: chr2:46915866-47076123 NCBI Ensembl UCSC - MANE Select Transcript
- NM_020458.4 ENST00000319190.11 (Read more about MANE Select)
- Function
- Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:23229899, PubMed:24417819). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, plays a central role in bridging PI4KA to EFR3B and HYCC1, via direct interactions (By similarity). {ECO:0000250|UniProtKB:Q86TV6, ECO:0000269|PubMed:23229899, ECO:0000269|PubMed:24417819}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-30961
ClinGen Curation ID:
CCID:008060
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- multiple intestinal atresia Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)