Hs06689656_cn

• Gene Symbol: IFT57
• Assay Reference Genome Location: Chr.3:108171394 on build GRCh38
• Cytoband: 3q13.12

Target Gene Details

• Entrez Gene ID: 55081
• Gene Name: intraflagellar transport 57
• Gene Aliases: ESRRBL1, HIPPI, MHS4R2
• Location: Chr.3:108160812-108222570 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IFT57	NM_018010.3			NP_060480.1
	AB014762.1			BAB87803.1
	AF139576.1			AAK13588.1
	AF245220.1			AAK28373.1
	AK001009.1			BAA91466.1
	AK298854.1
	BC009690.2			AAH09690.2
	BC011899.2			AAH11899.1
	CR457251.1			CAG33532.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1011158	Chr.3:107746970 - 108629120 on Build GRCh38	Gain	CD47 LINC01215 MYH15 HHLA2 DZIP3 IFT57 KIAA1524 LINC00635 BBX LINC00636

More Information

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

Panther Classification:

Molecular Function -

structural protein

Gene Ontology Categories:

Process(es)

neural tube closure
heart looping
transcription, DNA-templated
regulation of transcription, DNA-templated
apoptotic process
activation of cysteine-type endopeptidase activity involved in apoptotic process
smoothened signaling pathway
intraciliary transport
cilium assembly
regulation of apoptotic process
negative regulation of epithelial cell proliferation
left/right pattern formation

Function(s)

DNA binding
protein binding