Hs02230514_cn

• Gene Symbol: CHID1
• Assay Reference Genome Location: Chr.11:869899 on build GRCh38
• Cytoband: 11p15.5

Target Gene Details

• Entrez Gene ID: 66005
• Gene Name: chitinase domain containing 1
• Gene Aliases: GL008, SI-CLP, SICLP
• Location: Chr.11:867859-915058 on Build GRCh38
• Assay Gene Location: Within Exon 19

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHID1	NM_001142674.1	14	1388	NP_001136146.1
	NM_001142675.1	13	1498	NP_001136147.1
	NM_001142676.1	14	1359	NP_001136148.1
	NM_001142677.1	12	1191	NP_001136149.1
	NM_023947.3	13	1284	NP_076436.3
	XM_005253072.2	13	1371	XP_005253129.1
	XM_005253073.4	13	1279	XP_005253130.1
	XM_006718282.2	14	1359	XP_006718345.1
	XM_011520299.1	13	1595	XP_011518601.1
	XM_011520300.1	12	1502	XP_011518602.1
	XM_017018166.1	14	1445	XP_016873655.1
	AF212229.1	14	1322	AAK14915.1
	AK027711.1	13	1233	BAB55316.1
	AK075413.1	14	1295	BAC11603.1
	AK124697.1	13	1860
	AK225025.1	14	1324
	AK225398.1	14	1307
	AK297743.1	13	1365
	AK301245.1
	AY037151.1	12	1152	AAK67632.1
	BC000001.2	14	1308	AAH00001.1
	BC013642.1	11	920	AAH13642.1
	BC095409.1	13	1220	AAH95409.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3625087	Chr.11:860117 - 882352 on Build GRCh38	Gain	CHID1 TSPAN4
dgv1013n100	Chr.11:772982 - 933569 on Build GRCh38	Gain	PNPLA2 PANO1 AP2A2 CEND1 CRACR2B CD151 CHID1 POLR2L SNORA52 RPLP2 PDDC1 SLC25A22 LOC171391 TSPAN4 PIDD1
esv2759794	Chr.11:409846 - 1336162 on Build GRCh38	Loss	RNH1 PNPLA2 PANO1 PTDSS2 LRRC56 HRAS MUC5AC RASSF7 DEAF1 SCT CRACR2B TALDO1 MIR6744 CHID1 POLR2L SIGIRR DRD4 TMEM80 LOC171391 TSPAN4 PIDD1 MUC2 TOLLIP-AS1 LOC101927503 AP2A2 MUC6 MIR210HG TOLLIP CEND1 EPS8L2 MIR210 CD151 IRF7 MUC5B SNORA52 RPLP2 LOC101059906 LOC143666 LMNTD2 PDDC1 SLC25A22 CDHR5 PHRF1 ANO9
nsv552887	Chr.11:841284 - 876755 on Build GRCh38	Loss	CHID1 POLR2L TSPAN4
dgv182e199	Chr.11:349830 - 943372 on Build GRCh38	Deletion	RNH1 PNPLA2 PANO1 PTDSS2 LRRC56 HRAS RASSF7 DEAF1 SCT CRACR2B TALDO1 PKP3 CHID1 POLR2L SIGIRR DRD4 TMEM80 LOC171391 TSPAN4 PIDD1 B4GALNT4 AP2A2 MIR210HG CEND1 EPS8L2 MIR210 CD151 IRF7 SNORA52 RPLP2 LOC101059906 LOC143666 LMNTD2 PDDC1 SLC25A22 CDHR5 PHRF1 ANO9
esv2743878	Chr.11:864732 - 1489652 on Build GRCh38	Deletion	LOC101927503 AP2A2 MUC6 MUC5AC TOLLIP MIR6744 CHID1 MUC5B MOB2 TSPAN4 MUC2 BRSK2 TOLLIP-AS1
nsv1159791	Chr.11:461793 - 909492 on Build GRCh38	Deletion	RNH1 PNPLA2 PANO1 PTDSS2 LRRC56 HRAS RASSF7 DEAF1 SCT CRACR2B TALDO1 CHID1 POLR2L DRD4 TMEM80 LOC171391 TSPAN4 PIDD1 MIR210HG CEND1 EPS8L2 MIR210 CD151 IRF7 SNORA52 RPLP2 LOC101059906 LOC143666 LMNTD2 PDDC1 SLC25A22 CDHR5 PHRF1
nsv552871	Chr.11:766479 - 870446 on Build GRCh38	Loss	PNPLA2 PANO1 CEND1 CRACR2B CD151 CHID1 POLR2L SNORA52 RPLP2 PDDC1 SLC25A22 LOC171391 TSPAN4 PIDD1
nsv469923	Chr.11:378188 - 1302334 on Build GRCh38	Loss	RNH1 PNPLA2 PANO1 PTDSS2 LRRC56 HRAS MUC5AC RASSF7 DEAF1 SCT CRACR2B TALDO1 PKP3 MIR6744 CHID1 POLR2L SIGIRR DRD4 TMEM80 LOC171391 TSPAN4 PIDD1 MUC2 B4GALNT4 LOC101927503 AP2A2 MUC6 MIR210HG TOLLIP CEND1 EPS8L2 MIR210 CD151 IRF7 MUC5B SNORA52 RPLP2 LOC101059906 LOC143666 LMNTD2 PDDC1 SLC25A22 CDHR5 PHRF1 ANO9
dgv175e214	Chr.11:851409 - 1043855 on Build GRCh38	Gain	CHID1 AP2A2 MUC6 TSPAN4
esv2669189	Chr.11:864834 - 1489637 on Build GRCh38	Deletion	LOC101927503 AP2A2 MUC6 MUC5AC TOLLIP MIR6744 CHID1 MUC5B MOB2 TSPAN4 MUC2 BRSK2 TOLLIP-AS1
nsv832044	Chr.11:809019 - 938308 on Build GRCh38	Loss	PNPLA2 CD151 CHID1 POLR2L SNORA52 AP2A2 RPLP2 TSPAN4 PIDD1 CRACR2B
nsv1040044	Chr.11:776335 - 900929 on Build GRCh38	Gain+Loss	PNPLA2 PANO1 CEND1 CRACR2B CD151 CHID1 POLR2L SNORA52 RPLP2 PDDC1 SLC25A22 LOC171391 TSPAN4 PIDD1
nsv1048774	Chr.11:816471 - 900929 on Build GRCh38	Gain	PNPLA2 CD151 CHID1 POLR2L TSPAN4 CRACR2B
nsv951272	Chr.11:751201 - 911500 on Build GRCh38	Deletion	PNPLA2 PANO1 CEND1 CRACR2B TALDO1 CD151 CHID1 POLR2L SNORA52 RPLP2 PDDC1 SLC25A22 LOC171391 TSPAN4 PIDD1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process
chitin catabolic process
innate immune response
negative regulation of cytokine production involved in inflammatory response

Function(s)

chitinase activity
protein binding
chitin binding
oligosaccharide binding