Hs02554262_cn

• Gene Symbol: BORCS8
• Assay Reference Genome Location: Chr.19:19186095 on build GRCh38
• Cytoband: 19p13.11

Target Gene Details

• Entrez Gene ID: 729991
• Gene Name: BLOC-1 related complex subunit 8
• Gene Aliases: MEF2BNB
• Location: Chr.19:19176904-19192591 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BORCS8	NM_001145783.1			NP_001139255.1
	NM_001145784.1			NP_001139256.1
	BC004449.1			AAH04449.1
	BC157837.1
	BC157868.1
	DA440390.1

Target Gene Details

• Entrez Gene ID: 4207
• Gene Name: BORCS8-MEF2B readthrough
• Gene Aliases: LOC729991-MEF2B, MEF2B, MEF2BNB-MEF2B
• Location: Chr.19:19145567-19192591 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BORCS8-MEF2B	NM_005919.3			NP_005910.1
	NR_027307.1
	NR_027308.1
	AK301086.1
	AK316328.1
	X63380.1			CAA44978.1
	X68502.1			CAA48515.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833779	Chr.19:19052683 - 19202282 on Build GRCh38	Loss	ARMC6 TMEM161A RFXANK BORCS8 MEF2B SLC25A42 BORCS8-MEF2B NR2C2AP
nsv1151217	Chr.19:18627369 - 19284914 on Build GRCh38	Deletion	ARMC6 RFXANK HAPLN4 COPE CERS1 LOC102724360 TM6SF2 SLC25A42 GDF1 NCAN CRTC1 SUGP2 TMEM161A UPF1 SUGP1 DDX49 BORCS8 KLHL26 HOMER3 MEF2B BORCS8-MEF2B COMP NR2C2AP

More Information

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

Panther Classification:

Molecular Function -

MADS box transcription factor

Gene Ontology Categories:

Process(es)

heart development

Function(s)

protein binding