Hs02793193_cn

• Gene Symbol: CSAD
• Assay Reference Genome Location: Chr.12:53158484 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 20

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CSAD	NM_001244705.1	17	1777	NP_001231634.1
	NM_001244706.1	8	919	NP_001231635.1
	NM_015989.4	17	1874	NP_057073.4
	XM_011538442.2	17	2426	XP_011536744.2
	XM_011538446.2	16	2628	XP_011536748.1
	XM_011538449.1	11	996	XP_011536751.1
	XM_011538451.1	13	1297	XP_011536753.1
	XM_017019416.1	14	2019	XP_016874905.1
	XM_017019417.1	14	1394	XP_016874906.1
	XM_017019418.1	13	1407	XP_016874907.1
	XM_017019419.1	12	1251	XP_016874908.1
	AB044561.1	8	919	BAB60953.1
	AF116545.1			AAD32543.1
	AF116546.1	12	1172	AAD32544.1
	AF116547.1			AAD32545.1
	AF116548.1	17	1824	AAD32546.1
	AK122681.1	15	2331
	AK126934.1
	AK128796.1
	AK289659.1
	AK315265.1
	AV655618.1
	BC052249.1	17	1777	AAH52249.1
	BC098278.1			AAH98278.1
	BC098342.1			AAH98342.1
	BC099717.1			AAH99717.1
	BC105918.1			AAI05919.1

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	ITGB7 SOAT2 RARG IGFBP6 MFSD5 ZNF740 CSAD SPRYD3
nsv713	Chr.12:53118449 - 53160107 on Build GRCh38	Insertion	SOAT2 CSAD
nsv470294	Chr.12:53051498 - 53160499 on Build GRCh38	Loss	LOC283335 SOAT2 IGFBP6 TNS2 MIR6757 CSAD SPRYD3
nsv558994	Chr.12:53103618 - 53277765 on Build GRCh38	Loss	ITGB7 ESPL1 SOAT2 RARG MFSD5 ZNF740 CSAD
dgv2645n54	Chr.12:53099603 - 53227927 on Build GRCh38	Loss	ITGB7 SOAT2 RARG IGFBP6 ZNF740 CSAD
nsv517066	Chr.12:53006394 - 53340722 on Build GRCh38	Loss	SP7 ITGB7 RARG TNS2 MFSD5 MIR6757 CSAD SPRYD3 LOC283335 PFDN5 EIF4B ESPL1 SOAT2 IGFBP6 ZNF740 C12orf10 AAAS
nsv469404	Chr.12:53124036 - 53227927 on Build GRCh38	Loss	ITGB7 SOAT2 RARG ZNF740 CSAD
dgv2644n54	Chr.12:53064109 - 53211560 on Build GRCh38	Loss	ITGB7 SOAT2 RARG IGFBP6 TNS2 ZNF740 CSAD SPRYD3

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