Hs00696576_cn

• Gene Symbol: CD3EAP
• Assay Reference Genome Location: Chr.19:45406327 on build GRCh38
• Cytoband: 19q13.32

Target Gene Details

• Entrez Gene ID: 10849
• Gene Name: CD3e molecule associated protein
• Gene Aliases: ASE-1, ASE1, CAST, PAF49
• Location: Chr.19:45406129-45410766 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CD3EAP	NM_001297590.1	1	119	NP_001284519.1
	NM_012099.1	1	119	NP_036231.1
	XM_017026180.1	1	199	XP_016881669.1
	XM_017026181.1	1	199	XP_016881670.1
	BC054044.1			AAH54044.1
	BU166593.1
	U86751.1	1	119	AAB68608.1

Target Gene Details

• Entrez Gene ID: 10848
• Gene Name: protein phosphatase 1 regulatory subunit 13 like
• Gene Aliases: IASPP, NKIP1, RAI, RAI4
• Location: Chr.19:45379634-45406349 on Build GRCh38
• Assay Gene Location: Overlaps - Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PPP1R13L	NM_001142502.1			NP_001135974.1
	XM_017026177.1			XP_016881666.1
	XM_017026178.1			XP_016881667.1
	XM_017026179.1			XP_016881668.1
	BC064913.1			AAH64913.1
	DB209153.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833845	Chr.19:45308814 - 45457371 on Build GRCh38	Loss	ERCC1 PPP1R13L ERCC2 MIR6088 KLC3 CKM CD3EAP
nsv833846	Chr.19:45381005 - 45469089 on Build GRCh38	Loss	ERCC1 PPP1R13L FOSB MIR6088 CD3EAP
dgv1054e212	Chr.19:45347119 - 45407663 on Build GRCh38	Gain	ERCC1 PPP1R13L ERCC2 KLC3 CD3EAP
nsv458711	Chr.19:45323108 - 45408744 on Build GRCh38	Gain	ERCC1 PPP1R13L ERCC2 KLC3 CD3EAP
nsv428365	Chr.19:45358027 - 45469089 on Build GRCh38	Gain+Loss	ERCC1 PPP1R13L FOSB ERCC2 MIR6088 CD3EAP

More Information

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

Panther Classification:

Molecular Function -

DNA-directed RNA polymerase

Gene Ontology Categories:

Process(es)

transcription initiation from RNA polymerase I promoter
transcription elongation from RNA polymerase I promoter
termination of RNA polymerase I transcription
transmembrane receptor protein tyrosine kinase signaling pathway
rRNA transcription
positive regulation of gene expression, epigenetic
negative regulation of transcription from RNA polymerase II promoter
cardiac right ventricle morphogenesis
ventricular cardiac muscle tissue development
transcription, DNA-templated
apoptotic process
post-embryonic development
embryonic camera-type eye development
multicellular organism growth
hair cycle
positive regulation of cell differentiation
multicellular organismal homeostasis
cardiac muscle contraction
cell-cell adhesion
regulation of signal transduction by p53 class mediator

Function(s)

DNA-directed RNA polymerase activity
poly(A) RNA binding
transcription corepressor activity
protein binding
transcription factor binding
identical protein binding
cadherin binding involved in cell-cell adhesion