Hs00482885_cn

• Gene Symbol: MTCH1
• Assay Reference Genome Location: Chr.6:36981670 on build GRCh38
• Cytoband: 6p21.2

Target Gene Details

• Entrez Gene ID: 23787
• Gene Name: mitochondrial carrier 1
• Gene Aliases: CGI-64, PIG60, PSAP, SLC25A49
• Location: Chr.6:36968135-36986551 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MTCH1	NM_001271641.1			NP_001258570.1
	NM_014341.2			NP_055156.1
	NR_130739.1
	XM_005248978.1			XP_005249035.1
	XM_005248979.1			XP_005249036.1
	XM_011514450.1			XP_011512752.1
	XM_017010642.1			XP_016866131.1
	XM_017010643.1			XP_016866132.1
	AF151822.1			AAD34059.1
	AF176006.3			AAD52644.3
	AF189289.1			AAF07936.1
	AF192559.3			AAF12793.3
	AK022783.1
	AK130842.1
	AK225628.1
	AK303318.1
	AK315067.1
	AY947344.1
	BC000702.2			AAH00702.2
	BC006507.2			AAH06507.1
	BC009962.2			AAH09962.2
	BC040659.1			AAH40659.2
	BC110914.1			AAI10915.1
	BC125056.1
	BC153873.1
	DR005492.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv518386	Chr.6:36974970 - 37069894 on Build GRCh38	Gain	FGD2 MTCH1
nsv5263	Chr.6:36973849 - 37004333 on Build GRCh38	Deletion	MTCH1
esv988069	Chr.6:36974523 - 36983291 on Build GRCh38	Deletion	MTCH1
nsv1015689	Chr.6:36550916 - 39052434 on Build GRCh38	Gain	GLP1R C6orf89 CMTR1 SRSF3 ZFAND3 PI16 LOC107986531 MIR4462 TMEM217 BTBD9 MIR3925 MDGA1 LOC100131047 DNAH8 TBC1D22B FGD2 GLO1 PPIL1 RAB44 PANDAR CPNE5 PIM1 LOC100505530 MTCH1 RNF8 CCDC167 CDKN1A

More Information

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

Panther Classification:

Molecular Function -

mitochondrial carrier protein

Gene Ontology Categories:

Process(es)

transport
apoptotic process
activation of cysteine-type endopeptidase activity involved in apoptotic process
regulation of signal transduction
positive regulation of apoptotic process
neuronal ion channel clustering

Function(s)

protein binding