Hs05276240_cn

• Gene Symbol: CTNND1
• Assay Reference Genome Location: Chr.11:57777169 on build GRCh38
• Cytoband: 11q12.1

Target Gene Details

• Entrez Gene ID: 1500
• Gene Name: catenin delta 1
• Gene Aliases: CAS, CTNND, P120CAS, P120CTN, p120, p120(CAS), p120(CTN)
• Location: Chr.11:57761762-57819180 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CTNND1	NM_001085458.1			NP_001078927.1
	NM_001085459.1			NP_001078928.1
	NM_001085460.1			NP_001078929.1
	NM_001085461.1			NP_001078930.1
	NM_001085462.1			NP_001078931.1
	NM_001085463.1			NP_001078932.1
	NM_001085464.1			NP_001078933.1
	NM_001085465.1			NP_001078934.1
	NM_001085466.1			NP_001078935.1
	NM_001085467.1			NP_001078936.1
	NM_001085468.1			NP_001078937.1
	NM_001085469.1			NP_001078938.1
	NM_001206883.1			NP_001193812.1
	NM_001206884.1			NP_001193813.1
	NM_001206885.1			NP_001193814.1
	NM_001206886.1			NP_001193815.1
	NM_001206887.1			NP_001193816.1
	NM_001206888.1			NP_001193817.1
	NM_001206889.1			NP_001193818.1
	NM_001206890.1			NP_001193819.1
	NM_001206891.1			NP_001193820.1
	NM_001331.2			NP_001322.1
	AF062317.1			AAC39802.1
	AF062318.1			AAC39803.1
	AF062319.1			AAC39804.1
	AF062320.1			AAC39805.1
	AF062321.1			AAC39806.1
	AF062322.1			AAC39807.1
	AF062323.1			AAC39808.1
	AF062324.1			AAC39809.1
	AF062325.1			AAC39810.1
	AF062326.1			AAC39811.1
	AF062327.1			AAC39812.1
	AF062328.1			AAC39813.1
	AF062329.1			AAC39814.1
	AF062330.1			AAC39815.1
	AF062331.1			AAC39816.1
	AF062332.1			AAC39817.1
	AF062333.1			AAC39818.1
	AF062334.1			AAC39819.1
	AF062335.1			AAC39820.1
	AF062336.1			AAC39821.1
	AF062337.1			AAC39822.1
	AF062338.1			AAC39823.1
	AF062339.1			AAC39824.1
	AF062340.1			AAC39825.1
	AF062341.1			AAC39826.1
	AF062342.1			AAC39827.1
	AF062343.1			AAC39828.1
	AF062344.1			AAC39829.1
	AK292554.1
	AL698868.1
	BC075795.1			AAH75795.1
	BP217375.1
	CR749275.1			CAH18130.1
	DB090596.1

Target Gene Details

• Entrez Gene ID: 100528016
• Gene Name: TMX2-CTNND1 readthrough (NMD candidate)
• Gene Aliases: -
• Location: Chr.11:57712523-57819180 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMX2-CTNND1	NR_037646.1
	AB002382.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv327	Chr.11:57765169 - 57783274 on Build GRCh38	Deletion	TMX2-CTNND1 CTNND1
nsv508633	Chr.11:57652112 - 57792573 on Build GRCh38	Deletion	C11orf31 BTBD18 TMX2 ZDHHC5 TMX2-CTNND1 MED19 CLP1 CTNND1
nsv832164	Chr.11:57640144 - 57811353 on Build GRCh38	Loss	C11orf31 BTBD18 TMX2 MIR130A ZDHHC5 YPEL4 TMX2-CTNND1 MED19 CLP1 CTNND1

More Information

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

Panther Classification:

Molecular Function -

intermediate filament binding protein

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
regulation of transcription, DNA-templated
cell adhesion
brain development
Wnt signaling pathway
single organismal cell-cell adhesion
adherens junction organization
negative regulation of canonical Wnt signaling pathway

Function(s)

receptor binding
protein binding
protein kinase binding
cadherin binding
cadherin binding involved in cell-cell adhesion