Hs00053117_cn

• Gene Symbol: KLC1
• Assay Reference Genome Location: Chr.14:103698975 on build GRCh38
• Cytoband: 14q32.33

Target Gene Details

• Entrez Gene ID: 3831
• Gene Name: kinesin light chain 1
• Gene Aliases: KLC, KNS2, KNS2A
• Location: Chr.14:103629188-103701551 on Build GRCh38
• Assay Gene Location: Within Intron 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KLC1	NM_001130107.1			NP_001123579.1
	NM_182923.3			NP_891553.2
	AB451299.1
	AB451431.1
	AY180165.3			AAO62550.1
	AY180168.1			AAO62553.1
	BM988840.1
	L04733.1			AAA16576.1

Target Gene Details

• Entrez Gene ID: 7517
• Gene Name: X-ray repair cross complementing 3
• Gene Aliases: CMM6
• Location: Chr.14:103697611-103715486 on Build GRCh38
• Assay Gene Location: Overlaps Intron 9 - Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
XRCC3	NM_001100118.1			NP_001093588.1
	NM_001100119.1			NP_001093589.1
	NM_005432.3			NP_005423.1
	XM_005268046.2			XP_005268103.1
	XM_011537138.2			XP_011535440.1
	AF035586.1			AAC05368.1
	AK022829.1
	AK023646.1
	AK124498.1
	AK126706.1
	BC001036.1			AAH01036.1
	BC002949.1			AAH02949.1
	BC011725.2			AAH11725.1
	BT007417.1			AAP36085.1
	BX161398.1			CAD61884.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3635603	Chr.14:103624778 - 103714856 on Build GRCh38	Gain	LOC107984648 KLC1 XRCC3
nsv566023	Chr.14:103595309 - 103731914 on Build GRCh38	Loss	LOC107984648 KLC1 ZFYVE21 XRCC3
nsv952260	Chr.14:103697564 - 103723263 on Build GRCh38	Deletion	LOC107984648 KLC1 ZFYVE21 XRCC3
nsv470673	Chr.14:103695926 - 103753612 on Build GRCh38	Loss	PPP1R13B LOC107984648 KLC1 ZFYVE21 XRCC3
nsv1054574	Chr.14:103210111 - 105365114 on Build GRCh38	Loss	LINC00637 SIVA1 LINC00638 KIF26A LOC107984648 NUDT14 SNORA28 AKT1 CEP170B RD3L C14orf79 TDRD9 PACS2 LOC105370691 PPP1R13B BRF1 MIR4710 EIF5 AHNAK2 GPR132 PLD4 MIR203B LOC105378183 LOC105370708 TMEM179 APOPT1 LOC388022 CDCA4 LOC101929634 CKB KLC1 C14orf2 INF2 MIR203A ZBTB42 TRMT61A MIR6765 LOC102723354 C14orf180 ADSSL1 LOC105370687 BAG5 ASPG JAG2 ZFYVE21 BTBD6 MARK3 XRCC3
esv2760013	Chr.14:103681188 - 103946476 on Build GRCh38	Loss	LINC00637 TDRD9 PPP1R13B LOC107984648 KLC1 C14orf2 RD3L ZFYVE21 XRCC3

More Information

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

Panther Classification:

Molecular Function -

cytoskeletal protein, microtubule binding motor protein, microtubule or microtubule-binding cytoskeletal protein, DNA metabolism protein, nucleic acid metabolism protein

Gene Ontology Categories:

Process(es)

retrograde vesicle-mediated transport, Golgi to ER
microtubule-based movement
viral process
antigen processing and presentation of exogenous peptide antigen via MHC class II
stress granule disassembly
meiotic DNA recombinase assembly
telomere maintenance via recombination
double-strand break repair via homologous recombination
DNA synthesis involved in DNA repair
strand displacement
DNA repair
DNA recombination
cellular response to DNA damage stimulus
reciprocal meiotic recombination
response to organic substance
response to ionizing radiation
regulation of centrosome duplication
interstrand cross-link repair
strand invasion
resolution of mitotic recombination intermediates
positive regulation of mitotic cell cycle spindle assembly checkpoint
t-circle formation

Function(s)

motor activity
microtubule motor activity
protein binding
recombinase activity
four-way junction DNA binding
double-stranded DNA binding
single-stranded DNA binding
ATP binding
DNA-dependent ATPase activity
crossover junction endodeoxyribonuclease activity