ABR |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ABR (HGNC:81) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- ABR activator of RhoGEF and GTPase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- MDB
- %HI
- 10.64(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.63(Read more about gnomAD pLI score)
- LOEUF
- 0.36(Read more about gnomAD LOEUF score)
- Cytoband
- 17p13.3
- Genomic Coordinates
-
GRCh37/hg19: chr17:906759-1133016 NCBI Ensembl UCSC GRCh38/hg38: chr17:1003519-1229722 NCBI Ensembl UCSC - MANE Select Transcript
- NM_021962.5 ENST00000302538.10 (Read more about MANE Select)
- Function
- Protein with a unique structure having two opposing regulatory activities toward small GTP-binding proteins. The C-terminus is a GTPase-activating protein domain which stimulates GTP hydrolysis by RAC1, RAC2 and CDC42. Accelerates the intrinsic rate of GTP hydrolysis of RAC1 or CDC42, leading to down-regulation of the active GTP-bound form (PubMed:7479768, PubMed:17116687). The central Dbl homology (DH) domain functions as a guanine nucleotide exchange factor (GEF) that modulates the GTPases CDC... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-28061
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
09/05/2012
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)