15q13.1-q13.3 Copy Number Variation - CNVPathwayAtlas

15q13.1-q13.3 Copy Number Variation

Description

Genomic location GRCh37/hg19

Chr15:29161368-32462776

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Disorder Information from Orphanet

  1. ORPHA: 238446 Microduplication syndrome
    608636
    Disease definition: The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.
    World-wide prevalence: <1 / 1 000 000
    Very frequent (99–80%) phenotypic features: No phenotypic features available.

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Gene Information

HGNC Gene Name NCBI Ensembl UniProt
APBA2 amyloid beta precursor protein binding family A member 2 321 ENSG00000034053 Q99767
ENTREP2 endosomal transmembrane epsin interactor 2 23359 ENSG00000104059 O60320
NSMCE3 NSE3 component of SMC5/6 complex 56160 ENSG00000185115 Q96MG7
TJP1 tight junction protein 1 7082 ENSG00000104067 Q07157
GOLGA8J golgin A8 family member J 653073 ENSG00000179938 A6NMD2
GOLGA8T golgin A8 family member T 653075 ENSG00000261247 H3BQL2
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
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