ASPM |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ASPM (HGNC:19048) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- assembly factor for spindle microtubules
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- MCPH5
- Alias symbols
- Calmbp1, ASP, FLJ10517, FLJ10549
- %HI
- 41.31(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.74(Read more about gnomAD LOEUF score)
- Cytoband
- 1q31.3
- Genomic Coordinates
-
GRCh37/hg19: chr1:197053257-197115799 NCBI Ensembl UCSC GRCh38/hg38: chr1:197084127-197146669 NCBI Ensembl UCSC - MANE Select Transcript
- NM_018136.5 ENST00000367409.9 (Read more about MANE Select)
- Function
- Involved in mitotic spindle regulation and coordination of mitotic processes. The function in regulating microtubule dynamics at spindle poles including spindle orientation, astral microtubule density and poleward microtubule flux seems to depend on the association with the katanin complex formed by KATNA1 and KATNB1. Enhances the microtubule lattice severing activity of KATNA1 by recruiting the katanin complex to microtubules. Can block microtubule minus-end growth and reversely this function c... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-7386
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:
- autosomal recessive primary microcephaly Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)