Hs02169291_cn

• Gene Symbol: CSAD
• Assay Reference Genome Location: Chr.12:53180004 on build GRCh38
• Cytoband: 12q13.13

Target Gene Details

• Entrez Gene ID: 51380
• Gene Name: cysteine sulfinic acid decarboxylase
• Gene Aliases: CSD, PCAP
• Location: Chr.12:53157663-53180909 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CSAD	NM_001244705.1			NP_001231634.1
	NM_015989.4			NP_057073.4
	XM_011538442.2	1	548	XP_011536744.2
	XM_011538446.2	1	843	XP_011536748.1
	AF116545.1			AAD32543.1
	AF116546.1			AAD32544.1
	AF116547.1			AAD32545.1
	AF116548.1			AAD32546.1
	AK289659.1
	AK296885.1
	AK315265.1
	BC052249.1			AAH52249.1
	DA687716.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832417	Chr.12:53075874 - 53254231 on Build GRCh38	Gain	CSAD SPRYD3 IGFBP6 ZNF740 MFSD5 RARG SOAT2 ITGB7
nsv558994	Chr.12:53103618 - 53277765 on Build GRCh38	Loss	CSAD ESPL1 ZNF740 MFSD5 RARG SOAT2 ITGB7
dgv2645n54	Chr.12:53099603 - 53227927 on Build GRCh38	Loss	CSAD IGFBP6 ZNF740 RARG SOAT2 ITGB7
nsv517066	Chr.12:53006394 - 53340722 on Build GRCh38	Loss	CSAD SP7 SPRYD3 ZNF740 LOC283335 MIR6757 ITGB7 TNS2 EIF4B ESPL1 IGFBP6 MFSD5 RARG SOAT2 AAAS PFDN5 C12orf10
nsv469404	Chr.12:53124036 - 53227927 on Build GRCh38	Loss	CSAD ZNF740 RARG SOAT2 ITGB7
dgv2644n54	Chr.12:53064109 - 53211560 on Build GRCh38	Loss	CSAD SPRYD3 IGFBP6 ZNF740 RARG SOAT2 ITGB7 TNS2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

decarboxylase

Gene Ontology Categories:

Process(es)

carboxylic acid metabolic process
taurine biosynthetic process

Function(s)

sulfinoalanine decarboxylase activity
pyridoxal phosphate binding