15q13.2-q13.3 Copy Number Variation - CNVPathwayAtlas

15q13.2-q13.3 Copy Number Variation

Description

The major genes in this region are OTUD7A and CHRNA7 which are known influencers of neuronal development and function. For several genes in this region there are no exact functions known yet - e.g. the GOLGA gene group or the MTMR10 which is similar to phosphatidyl-inositol 3 phosphatases but without an active catalytic centre.

Genomic location

Assembly:

Coordinates:

Disorder Information from Orphanet

ORPHA:199318 Microdeletion syndrome
OMIM: 612001
Prevalence: 1-9 / 100 000
Definition:

A rare chromosomal anomaly characterized by a high risk for the occurrence of a wide range of neurodevelopmental anomalies including global developmental delay (DD), intellectual disability (ID), and behavioral issues of varying severity. 15q13.3 microdeletion does not lead to a clinically specific phenotype.

Phenotypic features:
Obligate
(100%)		 Very frequent
(99–80%)		 Frequent
(79–30%)		 Occasional
(29–5%)		 Very rare
(<4-1%)		 Excluded
(0%)
- - - -

Molecular pathway

View on WikiPathways

Gene Information

HGNC Gene Name NCBI Ensembl UniProt
CHRFAM7A CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion 89832 ENSG00000166664 Q494W8
GOLGA8R golgin A8 family member R 101059918 ENSG00000186399 I6L899
GOLGA8Q golgin A8 family member Q 727909 ENSG00000178115 H3BV12
GOLGA8H golgin A8 family member H 728498 ENSG00000261794 P0CJ92
ARHGAP11B Rho GTPase activating protein 11B 89839 ENSG00000285077 Q3KRB8
FAN1 FANCD2 and FANCI associated nuclease 1 22909 ENSG00000198690 Q9Y2M0
MTMR10 myotubularin related protein 10 54893 ENSG00000166912 Q9NXD2
TRPM1 transient receptor potential cation channel subfamily M member 1 4308 ENSG00000134160 Q7Z4N2
KLF13 KLF transcription factor 13 51621 ENSG00000169926 Q9Y2Y9
OTUD7A OTU deubiquitinase 7A 161725 ENSG00000169918 Q8TE49
CHRNA7 cholinergic receptor nicotinic alpha 7 subunit 1139 ENSG00000175344 P36544

Evidence