Hs05204820_cn

• Gene Symbol: PTF1A
• Assay Reference Genome Location: Chr.10:23194213 on build GRCh38
• Cytoband: 10p12.2

Target Gene Details

• Entrez Gene ID: 256297
• Gene Name: pancreas specific transcription factor, 1a
• Gene Aliases: PACA, PAGEN2, PTF1-p48, bHLHa29
• Location: Chr.10:23192531-23194252 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PTF1A	NM_178161.2			NP_835455.1
	CK904916.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv825302	Chr.10:23168093 - 23208400 on Build GRCh38	Gain	PTF1A C10orf67
nsv550213	Chr.10:23193706 - 23334594 on Build GRCh38	Loss	PTF1A C10orf67
nsv1068293	Chr.10:23189170 - 23194971 on Build GRCh38	Deletion	PTF1A
nsv825301	Chr.10:23151675 - 23216917 on Build GRCh38	Gain	PTF1A C10orf67
nsv831810	Chr.10:23156718 - 23316341 on Build GRCh38	Gain	PTF1A C10orf67

More Information

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

Panther Classification:

Molecular Function -

basic helix-loop-helix transcription factor

Gene Ontology Categories:

Process(es)

regulation of transcription, DNA-templated
transcription from RNA polymerase II promoter
embryo development
tissue development
retina layer formation
cerebellum development
pancreas development
exocrine pancreas development
amacrine cell differentiation
positive regulation of transcription from RNA polymerase II promoter
retinoic acid receptor signaling pathway
neuron fate commitment
regulation of neural retina development

Function(s)

RNA polymerase II distal enhancer sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
DNA binding
chromatin binding
protein dimerization activity
E-box binding