• 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SRCAP (HGNC:16974) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
Snf2 related CREBBP activator protein
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
KIAA0309, SWR1, DOMO1
%HI
34.43(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.1(Read more about gnomAD LOEUF score)
Cytoband
16p11.2
Genomic Coordinates
GRCh37/hg19: chr16:30710492-30752730 NCBI Ensembl UCSC
GRCh38/hg38: chr16:30699171-30741409 NCBI Ensembl UCSC
MANE Select Transcript
NM_006662.3 ENST00000262518.9 (Read more about MANE Select)
Function
Catalytic component of the SRCAP complex which mediates the ATP-dependent exchange of histone H2AZ/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling. Acts as a coactivator for CREB-mediated transcription, steroid receptor-mediated transcription, and Notch- mediated transcription. {ECO:0000269|PubMed:10347196, ECO:0000269|PubMed:11522779, ECO:0000269|PubMed:14500758, ECO:0000269|PubMed:16024792, ECO:0000269|PubMed:16634648, ECO:000... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-20217
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
05/31/2018

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 28263302
    Yuen et al - MSSNG project, WGS, autism study, 2,066 families, one de novo LOF in SRCAP exon 27
  • PUBMED: 25363768
    Iossifov et al - Simons Simplex Collection, WES, autism study, 2,517 families, one de novo LOF in SRCAP exon 29
HI Evidence Comments:
SRCAP has a well established association with Floating-Habor syndrome via a dominant negative mechanism: Hood et al (2012, PMID:22265015) reported 5 mutations (nonsense or frameshift) in 13 patients with Floating-Harbor syndrome. Parental specimens were available for testing in 6 cases and all were de novo. However, based on a study done by Monroy et al (2001, PMID:1152279), the non-random clustering of the mutations, and two HapMap control individuals with deletions involving SRCAP, Hood et al. conclude that these mutations likely result in a dominant-negative effect. Additionally, Le Goff et al (2013, PMID:22965468) reported the same mutations in 6 of 9 patients with Floating-Harbor syndrome and Reschen et al (2012, PMID:23165645) reported one patient with a recurrent mutation. See also PMID 25326637: Lee et al - WES, clinical service, 814 cases, one de novo LOF in SRCAP (p.Arg2435*) in patient with develomental delay, speech delay, short stature, microcephaly, dysmorphic features, ptosis, brachydactyly, Coffin-Siris syndrome, Kabuki. This patient is consistent with Floating-Habor as well. Following re-review of this gene, there are also 2 de novo LOFs in patients with autism (PMID 28263302 & 25363768). Therefore, an updated haploinsufficiency score of 1 has been assigned.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)