Hs00137570_cn

• Gene Symbol: KLC1
• Assay Reference Genome Location: Chr.14:103699353 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 8 - Exon 8

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

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