Hs00042798_cn

• Gene Symbol: KLC1
• Assay Reference Genome Location: Chr.14:103699189 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 9

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 XRCC3 KLC1 ZFYVE21
nsv952260	Chr.14:103697564 - 103723263 on Build GRCh38	Deletion	LOC107984648 XRCC3 KLC1 ZFYVE21
nsv527425	Chr.14:103695926 - 103731914 on Build GRCh38	Loss	LOC107984648 XRCC3 KLC1 ZFYVE21
nsv1054574	Chr.14:103210111 - 105365114 on Build GRCh38	Loss	JAG2 LOC107984648 GPR132 BAG5 ZFYVE21 BTBD6 KIF26A LOC105370687 CDCA4 CKB ZBTB42 C14orf180 PPP1R13B INF2 LOC102723354 ASPG SIVA1 LOC105370691 PACS2 ADSSL1 LINC00638 PLD4 C14orf79 MIR203B APOPT1 TMEM179 MIR4710 C14orf2 BRF1 NUDT14 AHNAK2 MIR6765 LOC101929634 MIR203A LINC00637 LOC388022 AKT1 MARK3 XRCC3 KLC1 TDRD9 SNORA28 TRMT61A EIF5 LOC105378183 LOC105370708 CEP170B RD3L
esv2760013	Chr.14:103681188 - 103946476 on Build GRCh38	Loss	PPP1R13B LOC107984648 C14orf2 XRCC3 KLC1 TDRD9 LINC00637 ZFYVE21 RD3L

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