Hs02852491_cn

• Gene Symbol: CSAD
• Assay Reference Genome Location: Chr.12:53160808 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 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CSAD	NM_001244705.1	13	1189	NP_001231634.1
	NM_001244706.1	4	331	NP_001231635.1
	NM_015989.4	13	1286	NP_057073.4
	XM_011538442.2	13	1838	XP_011536744.2
	XM_011538446.2	12	2040	XP_011536748.1
	XM_011538449.1	7	408	XP_011536751.1
	XM_011538451.1	9	709	XP_011536753.1
	XM_017019416.1	10	1431	XP_016874905.1
	XM_017019417.1	10	806	XP_016874906.1
	XM_017019418.1	9	819	XP_016874907.1
	XM_017019419.1	8	663	XP_016874908.1
	AB044561.1	4	331	BAB60953.1
	AF116545.1	12	1029	AAD32543.1
	AF116546.1	8	584	AAD32544.1
	AF116547.1	12	997	AAD32545.1
	AF116548.1	13	1236	AAD32546.1
	AK122681.1	11	1743
	AK126934.1
	AK128796.1
	AK289659.1	8	705
	AK315265.1	13	1213
	AV655618.1
	BC052249.1	13	1189	AAH52249.1
	BC098278.1	12	1062	AAH98278.1
	BC098342.1	12	1062	AAH98342.1
	BC099717.1	12	1062	AAH99717.1
	BC105918.1	12	1062	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	CSAD MFSD5 IGFBP6 RARG ITGB7 ZNF740 SPRYD3 SOAT2
nsv558994	Chr.12:53103618 - 53277765 on Build GRCh38	Loss	ESPL1 CSAD MFSD5 RARG ITGB7 ZNF740 SOAT2
dgv2645n54	Chr.12:53099603 - 53227927 on Build GRCh38	Loss	CSAD IGFBP6 RARG ITGB7 ZNF740 SOAT2
nsv517066	Chr.12:53006394 - 53340722 on Build GRCh38	Loss	C12orf10 ESPL1 CSAD MFSD5 IGFBP6 RARG MIR6757 SPRYD3 SOAT2 LOC283335 TNS2 AAAS ITGB7 ZNF740 EIF4B SP7 PFDN5
nsv469404	Chr.12:53124036 - 53227927 on Build GRCh38	Loss	CSAD RARG ITGB7 ZNF740 SOAT2
dgv2644n54	Chr.12:53064109 - 53211560 on Build GRCh38	Loss	CSAD TNS2 IGFBP6 RARG ITGB7 ZNF740 SPRYD3 SOAT2

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