CNTN1 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CNTN1 (HGNC:2171) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- contactin 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- F3, GP135
- %HI
- 22.29(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.15(Read more about gnomAD pLI score)
- LOEUF
- 0.37(Read more about gnomAD LOEUF score)
- Cytoband
- 12q12
- Genomic Coordinates
-
GRCh37/hg19: chr12:41086241-41466217 NCBI Ensembl UCSC GRCh38/hg38: chr12:40692439-41072415 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001843.4 ENST00000551295.7 (Read more about MANE Select)
- Function
- Contactins mediate cell surface interactions during nervous system development. Involved in the formation of paranodal axo-glial junctions in myelinated peripheral nerves and in the signaling between axons and myelinating glial cells via its association with CNTNAP1. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. ... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-33494
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Compton-North congenital myopathy Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000012.11)
(NC_000012.12)