15q25.2-q25.3 Copy Number Variation - CNVs Booklet

15q25.2-q25.3 Copy Number Variation

Description

Genomic location GRCh37/hg19

Chr15:83219735-85722039

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Disorder Information from Orphanet

This CNV is not yet linked to an OrphaCode.

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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