Hs02957067_cn

• Gene Symbol: AP4B1
• Assay Reference Genome Location: Chr.1:113904736 on build GRCh38
• Cytoband: 1p13.2

Target Gene Details

• Entrez Gene ID: 10717
• Gene Name: adaptor related protein complex 4 beta 1 subunit
• Gene Aliases: BETA-4, CPSQ5, SPG47
• Location: Chr.1:113894194-113905202 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AP4B1	NM_001253852.2	1	188	NP_001240781.1
	NM_001253853.2	2	241	NP_001240782.1
	NM_001308312.1	1	188	NP_001295241.1
	NM_006594.4	2	241	NP_006585.2
	XM_011540523.2	2	319	XP_011538825.1
	XM_011540524.2	1	153	XP_011538826.1
	XM_011540525.2	2	319	XP_011538827.1
	XM_011540528.2	2	183	XP_011538830.1
	XM_017000088.1	2	183	XP_016855577.1
	XM_017000089.1			XP_016855578.1
	XM_017000090.1	2	183	XP_016855579.1
	XM_017000091.1	2	319	XP_016855580.1
	XM_017000092.1			XP_016855581.1
	XM_017000093.1			XP_016855582.1
	AB209817.1	1	125	BAD93054.1
	AF092094.1	2	185	AAD20448.1
	AK093740.1	1	93
	AK298037.1	1	128
	AK300204.1	2	80
	AK314641.1	2	145
	BC014146.2	1	46	AAH14146.1
	BG718098.1	2	323
	DC299853.1	1	168
	DC367373.1	2	237
	DC368382.1	1	188
	DC390197.1	2	223
	HY012945.1	2	242

Target Gene Details

• Entrez Gene ID: 64858
• Gene Name: DNA cross-link repair 1B
• Gene Aliases: APOLLO, SNM1B, SNMIB
• Location: Chr.1:113904619-113914086 on Build GRCh38
• Assay Gene Location: Overlaps Exon 1 - Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DCLRE1B	NM_001319947.1			NP_001306876.1
	DA414122.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3587251	Chr.1:113871703 - 113936287 on Build GRCh38	Loss	BCL2L15 DCLRE1B HIPK1 PTPN22 AP4B1 AP4B1-AS1 HIPK1-AS1
esv3587240	Chr.1:113533246 - 114158910 on Build GRCh38	Loss	BCL2L15 DCLRE1B PHTF1 OLFML3 RSBN1 MAGI3 HIPK1 PTPN22 AP4B1 AP4B1-AS1 SYT6 HIPK1-AS1
esv23869	Chr.1:113320330 - 114358495 on Build GRCh38	Loss	BCL2L15 DCLRE1B PHTF1 OLFML3 RSBN1 MAGI3 HIPK1 PTPN22 AP4B1 AP4B1-AS1 SYT6 HIPK1-AS1

More Information

• Set Membership: Intragenic, Exonic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

membrane traffic protein, DNA metabolism protein

Gene Ontology Categories:

Process(es)

intracellular protein transport
vesicle-mediated transport
cell cycle checkpoint
telomere maintenance
double-strand break repair via nonhomologous end joining
telomeric loop formation
protection from non-homologous end joining at telomere
telomeric 3' overhang formation
interstrand cross-link repair
nucleic acid phosphodiester bond hydrolysis

Function(s)

transporter activity
protein binding
protein transporter activity
damaged DNA binding
5'-3' exonuclease activity
5'-3' exodeoxyribonuclease activity