Hs02244125_cn

• Gene Symbol: C11orf57
• Assay Reference Genome Location: Chr.11:112085010 on build GRCh38
• Cytoband: 11q23.1

Target Gene Details

• Entrez Gene ID: 55216
• Gene Name: chromosome 11 open reading frame 57
• Gene Aliases: -
• Location: Chr.11:112074244-112085150 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C11orf57	NM_001082969.1	6	3043	NP_001076438.1
	NM_001082970.1	6	3598	NP_001076439.1
	NM_001301017.1	6	3040	NP_001287946.1
	NM_001301019.1	6	3084	NP_001287948.1
	NM_001301021.1	6	3081	NP_001287950.1
	NM_018195.3	6	3601	NP_060665.3
	NR_103469.1	6	3642
	AB096251.1	6	2947
	AK001588.1	3	2659	BAA91774.1
	BC048133.1	6	3529
	BM670479.1	1	157
	BX538107.1	6	3600	CAD98020.1

Target Gene Details

• Entrez Gene ID: 26521
• Gene Name: translocase of inner mitochondrial membrane 8 homolog B
• Gene Aliases: DDP2, TIM8B
• Location: Chr.11:112084800-112086798 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TIMM8B	NM_012459.2	2	612	NP_036591.2
	NR_028383.1	3	945
	CF541334.1	1	212

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2745077	Chr.11:111949712 - 112188677 on Build GRCh38	Deletion	PIH1D2 SDHD IL18 BCO2 TIMM8B DLAT C11orf57 DIXDC1 TEX12

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

protein targeting to mitochondrion
sensory perception of sound
chaperone-mediated protein transport

Function(s)

protein binding
zinc ion binding