ZWILCH |
- 1
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ZWILCH (HGNC:25468) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- zwilch kinetochore protein
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- FLJ10036, KNTC1AP
- %HI
- 35.84(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.02(Read more about gnomAD LOEUF score)
- Cytoband
- 15q22.31
- Genomic Coordinates
-
GRCh37/hg19: chr15:66797664-66842468 NCBI Ensembl UCSC GRCh38/hg38: chr15:66505326-66550130 NCBI Ensembl UCSC - MANE Select Transcript
- NM_017975.5 ENST00000307897.10 (Read more about MANE Select)
- Function
- Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex (PubMed:15824131). {ECO:0000269|PubMed:15824131}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-28166
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency
(1)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
04/24/2019
Haploinsufficiency (HI) Score Details
HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence:
-
PUBMED:
25363768
In an exome sequencing study, Iossifov et al identified a de novo frameshift variant in the ZWILCH gene in one patient with autism spectrum disorder.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
To our knowledge, no focal duplications involving the ZWILCH gene have been reported.
Genomic View
Select assembly:
(NC_000015.9)
(NC_000015.10)