Hs01632985_cn

• Gene Symbol: KTI12
• Assay Reference Genome Location: Chr.1:52033523 on build GRCh38
• Cytoband: 1p32.3

Target Gene Details

• Entrez Gene ID: 112970
• Gene Name: KTI12 chromatin associated homolog
• Gene Aliases: SBBI81, TOT4
• Location: Chr.1:52032105-52033800 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KTI12	NM_138417.2	1	278	NP_612426.1
	AF327348.1	1	259	AAL56009.1
	AK313746.1	1	322
	BC012173.1	1	242	AAH12173.1
	BI909162.1	1	294

Target Gene Details

• Entrez Gene ID: 51060
• Gene Name: thioredoxin domain containing 12
• Gene Aliases: AG1, AGR1, ERP16, ERP18, ERP19, PDIA16, TLP19, hAG-1, hTLP19
• Location: Chr.1:52020131-52056171 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TXNDC12	NM_015913.3			NP_056997.1
	NR_046405.1	3	1762
	NR_046406.1	3	1639
	AF131758.1			AAD20035.1
	AF543416.1			AAN34781.1
	AK056169.1
	AK075409.1
	AY358982.1			AAQ89341.1
	BC001493.2			AAH01493.1
	BC008913.2			AAH08913.1
	BC008953.2			AAH08953.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1004103	Chr.1:52030594 - 52087736 on Build GRCh38	Loss	KTI12 BTF3L4 TXNDC12 TXNDC12-AS1
nsv829848	Chr.1:51902939 - 52076027 on Build GRCh38	Loss	KTI12 BTF3L4 TXNDC12 TXNDC12-AS1 RAB3B

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

reductase

Gene Ontology Categories:

Process(es)

cell redox homeostasis
oxidation-reduction process
negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway

Function(s)

protein binding
ATP binding
peptide disulfide oxidoreductase activity
protein-disulfide reductase (glutathione) activity