Hs01730082_cn

• Gene Symbol: AAMDC
• Assay Reference Genome Location: Chr.11:77879083 on build GRCh38
• Cytoband: 11q14.1

Target Gene Details

• Entrez Gene ID: 28971
• Gene Name: adipogenesis associated Mth938 domain containing
• Gene Aliases: C11orf67, CK067, PTD015
• Location: Chr.11:77821114-77901281 on Build GRCh38
• Assay Gene Location: Within Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AAMDC	NM_001316957.1			NP_001303886.1
	NM_001316958.1			NP_001303887.1
	NR_133637.1
	XM_017017620.1			XP_016873109.1
	AF092136.1			AAD40378.1
	BC016854.2			AAH16854.1
	BP270361.1
	BX646013.1
	CN362204.1

Target Gene Details

• Entrez Gene ID: 92105
• Gene Name: integrator complex subunit 4
• Gene Aliases: INT4, MST093
• Location: Chr.11:77874491-77994849 on Build GRCh38
• Assay Gene Location: Within Exon 25

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
INTS4	NM_033547.3	23	2786	NP_291025.3
	XM_011545352.2	24	2955	XP_011543654.1
	XM_017018560.1			XP_016874049.1
	AF172822.1	10	1172	AAQ13616.1
	AK290866.1	23	2782
	AL834171.1	23	2730
	BC006369.1	11	1155	AAH06369.1
	BC008013.1	19	2239	AAH08013.1
	BC009859.2	13	1445	AAH09859.2
	BC015664.2	24	3096	AAH15664.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv520740	Chr.11:77842592 - 78286890 on Build GRCh38	Gain	NDUFC2 KCTD14 ALG8 KCTD21 NDUFC2-KCTD14 KCTD21-AS1 USP35 INTS4 AAMDC GAB2 RSF1 THRSP
nsv524537	Chr.11:77872220 - 77882175 on Build GRCh38	Loss	INTS4 AAMDC RSF1
nsv555453	Chr.11:77866448 - 77907395 on Build GRCh38	Loss	INTS4 AAMDC RSF1
nsv1050891	Chr.11:77705600 - 78076956 on Build GRCh38	Gain	NDUFC2 KCTD14 NDUFC2-KCTD14 INTS4 RPS20P27 AAMDC RSF1 THRSP

More Information

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

Gene Ontology Categories:

Process(es)

negative regulation of apoptotic process
positive regulation of fat cell differentiation
positive regulation of transcription from RNA polymerase II promoter
snRNA processing
snRNA transcription from RNA polymerase II promoter

Function(s)

protein binding