KIF6

kinesin family member 6, the group of Kinesins

Basic information

Region (hg38): 6:39329990-39725408

Previous symbols: [ "C6orf102" ]

Links

ENSG00000164627 ∙ NCBI:221458 ∙ OMIM:613919 ∙ HGNC:21202 ∙ Uniprot:Q6ZMV9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KIF6 gene.

• not_specified (104 variants)
• not_provided (2 variants)
• KIF6-related_disorder (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000145027.6. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			102	3		105
nonsense						0
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	103	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIF6	protein_coding	protein_coding	ENST00000287152	23	395416

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.09e-27	0.00307	125583	0	165	125748	0.000656

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.434	408	433	0.941	0.0000223	5371
Missense in Polyphen		158	151.02	1.0462		1891
Synonymous	1.21	139	158	0.878	0.00000841	1475
Loss of Function	0.927	45	52.2	0.862	0.00000296	599

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00153	0.00153
Ashkenazi Jewish	0.00	0.00
East Asian	0.000772	0.000761
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000870	0.000862
Middle Eastern	0.000772	0.000761
South Asian	0.000395	0.000392
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Pathway: Vesicle-mediated transport;Membrane Trafficking;Kinesins;Factors involved in megakaryocyte development and platelet production;Hemostasis;COPI-dependent Golgi-to-ER retrograde traffic;Golgi-to-ER retrograde transport;Intra-Golgi and retrograde Golgi-to-ER traffic (Consensus)

Recessive Scores

• pRec: 0.0948

Intolerance Scores

• loftool: 0.890
• rvis_EVS: 0.3
• rvis_percentile_EVS: 71.64

Haploinsufficiency Scores

• pHI: 0.0954
• hipred: N
• hipred_score: 0.216
• ghis: 0.495

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.677

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Kif6

Zebrafish Information Network

• Gene name: kif6
• Affected structure: vertebral column
• Phenotype tag: abnormal
• Phenotype quality: curved

Gene ontology

• Biological process: microtubule-based movement
• Cellular component: male germ cell nucleus;cytoplasm;kinesin complex;microtubule
• Molecular function: microtubule motor activity;protein binding;ATP binding;microtubule binding;ATPase activity