15q25.2-q25.3 Copy Number Variation - CNVPathwayAtlas

15q25.2-q25.3 Copy Number Variation

Description

15q25 copy number variations are rare genetic disorders that cause neuropsychiatric disorders, developmental delay and cardiac abnormalities.

Genomic location

Assembly:

Coordinates:

Disorder Information from Orphanet

This CNV is not yet linked to an OrphaCode.

Molecular pathway

View on WikiPathways

Gene Information

HGNC Gene Name NCBI Ensembl UniProt
CPEB1 cytoplasmic polyadenylation element binding protein 1 64506 ENSG00000214575 Q9BZB8
AP3B2 adaptor related protein complex 3 subunit beta 2 8120 ENSG00000103723 Q13367
FSD2 fibronectin type III and SPRY domain containing 2 123722 ENSG00000186628 A1L4K1
WHAMM WASP homolog associated with actin, golgi membranes and microtubules 123720 ENSG00000156232 Q8TF30
HOMER2 homer scaffold protein 2 9455 ENSG00000103942 Q9NSB8
RAMAC RNA guanine-7 methyltransferase activating subunit 83640 ENSG00000169612 Q9BTL3
C15orf40 chromosome 15 open reading frame 40 123207 ENSG00000169609 Q8WUR7
BTBD1 BTB domain containing 1 53339 ENSG00000064726 Q9H0C5
TM6SF1 transmembrane 6 superfamily member 1 53346 ENSG00000136404 Q9BZW5
HDGFL3 HDGF like 3 50810 ENSG00000166503 Q9Y3E1
BNC1 basonuclin zinc finger protein 1 646 ENSG00000169594 Q01954
SH3GL3 SH3 domain containing GRB2 like 3, endophilin A3 6457 ENSG00000140600 Q99963
ADAMTSL3 ADAMTS like 3 57188 ENSG00000156218 P82987
GOLGA6L4 golgin A6 family like 4 643707 ENSG00000184206 A6NEF3
ZSCAN2 zinc finger and SCAN domain containing 2 54993 ENSG00000176371 Q7Z7L9
WDR73 WD repeat domain 73 84942 ENSG00000177082 Q6P4I2
NMB neuromedin B 4828 ENSG00000197696 P08949
SEC11A SEC11 homolog A, signal peptidase complex subunit 23478 ENSG00000140612 P67812
ZNF592 zinc finger protein 592 9640 ENSG00000166716 Q92610
ALPK3 alpha kinase 3 57538 ENSG00000136383 Q96L96
SLC28A1 solute carrier family 28 member 1 9154 ENSG00000156222 O00337
PDE8A phosphodiesterase 8A 5151 ENSG00000073417 O60658

Evidence