Hs00923314_cn

• Gene Symbol: CFAP157
• Assay Reference Genome Location: Chr.9:127714140 on build GRCh38
• Cytoband: 9q34.11

Target Gene Details

• Entrez Gene ID: 286207
• Gene Name: cilia and flagella associated protein 157
• Gene Aliases: C9orf117
• Location: Chr.9:127706261-127716002 on Build GRCh38
• Assay Gene Location: Within Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CFAP157	XM_011518559.2			XP_011516861.2
	AK126437.1
	AL833241.1	2	846
	BC133027.1

Target Gene Details

• Entrez Gene ID: 138428
• Gene Name: peptidyl-tRNA hydrolase 1 homolog
• Gene Aliases: C9orf115, PTH1
• Location: Chr.9:127695024-127716714 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PTRH1	NM_001002913.1	5	623	NP_001002913.1
	XM_006716955.3	5	1587	XP_006717018.1
	XM_017014276.1	4	1776	XP_016869765.1
	XM_017014277.1			XP_016869766.1
	XM_017014278.1	4	1580	XP_016869767.1
	AK090922.1	6	2062
	BC047012.1	5	623	AAH47012.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv466571	Chr.9:127707924 - 127774438 on Build GRCh38	Loss	TTC16 PTRH1 TOR2A SH2D3C CFAP157

More Information

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

Panther Classification:

Molecular Function -

structural protein, esterase

Gene Ontology Categories:

Process(es)

mitochondrial translation

Function(s)

aminoacyl-tRNA hydrolase activity
protein binding
poly(A) RNA binding