KIFC1

kinesin family member C1, the group of Kinesins

Basic information

Region (hg38): 6:33391822-33409896

Previous symbols: [ "KNSL2" ]

Links

ENSG00000237649 ∙ NCBI:3833 ∙ OMIM:603763 ∙ HGNC:6389 ∙ Uniprot:Q9BW19 ∙ 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 KIFC1 gene.

• Inborn genetic diseases (26 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIFC1 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			22	4		26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	22	4	1

Variants in KIFC1

This is a list of pathogenic ClinVar variants found in the KIFC1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-33398035-C-T		not specified	Uncertain significance (Jun 05, 2023)
6-33398060-T-C		not specified	Likely benign (Dec 13, 2021)
6-33398086-G-T		not specified	Uncertain significance (Aug 30, 2021)
6-33398130-G-T		not specified	Uncertain significance (Dec 27, 2023)
6-33398291-C-T		not specified	Uncertain significance (Jul 12, 2022)
6-33403337-G-C		not specified	Uncertain significance (Aug 12, 2021)
6-33403821-C-G		not specified	Uncertain significance (Apr 22, 2022)
6-33404089-A-T		not specified	Uncertain significance (Nov 13, 2023)
6-33404095-G-A		not specified	Uncertain significance (Feb 22, 2023)
6-33404101-G-T		not specified	Uncertain significance (Dec 28, 2022)
6-33404874-C-T		not specified	Uncertain significance (Oct 03, 2023)
6-33404936-G-A		not specified	Likely benign (Apr 03, 2023)
6-33404951-C-T		not specified	Uncertain significance (Jun 29, 2023)
6-33404961-G-A		not specified	Uncertain significance (Aug 02, 2021)
6-33405060-C-T		not specified	Uncertain significance (Jul 06, 2021)
6-33405089-C-T		not specified	Uncertain significance (Dec 13, 2022)
6-33405135-G-A		not specified	Likely benign (Jan 26, 2023)
6-33405161-C-T		not specified	Uncertain significance (Jul 25, 2023)
6-33405177-G-T		not specified	Uncertain significance (May 18, 2023)
6-33405191-C-A		not specified	Uncertain significance (Feb 07, 2023)
6-33405197-A-G		not specified	Uncertain significance (Apr 11, 2023)
6-33405216-T-G		not specified	Uncertain significance (Dec 08, 2023)
6-33405229-C-G		not specified	Uncertain significance (Mar 29, 2023)
6-33405233-C-T		not specified	Uncertain significance (Jan 03, 2024)
6-33405423-C-G		not specified	Uncertain significance (Nov 08, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIFC1	protein_coding	protein_coding	ENST00000428849	11	18389

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000657	0.999	125679	0	69	125748	0.000274

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.68	311	406	0.765	0.0000258	4278
Missense in Polyphen		105	159.97	0.65638		1647
Synonymous	-0.149	160	158	1.02	0.00000821	1473
Loss of Function	3.27	11	30.5	0.361	0.00000161	334

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000391	0.000391
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.000566	0.000508
European (Non-Finnish)	0.000343	0.000334
Middle Eastern	0.000109	0.000109
South Asian	0.000196	0.000196
Other	0.000516	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Minus end-directed microtubule-dependent motor required for bipolar spindle formation (PubMed:15843429). May contribute to movement of early endocytic vesicles (By similarity). Regulates cilium formation and structure (By similarity). {ECO:0000250|UniProtKB:Q9QWT9, ECO:0000269|PubMed:15843429}.
• 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)

Intolerance Scores

• loftool: 0.646
• rvis_EVS: 1.09
• rvis_percentile_EVS: 91.87

Haploinsufficiency Scores

• pHI: 0.371
• hipred: Y
• hipred_score: 0.658
• ghis: 0.578

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.953

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kifc5b

Gene ontology

• Biological process: mitotic sister chromatid segregation;microtubule-based movement;mitotic metaphase plate congression;spermatogenesis;cell division;mitotic spindle assembly
• Cellular component: nucleus;early endosome;microtubule organizing center;kinesin complex;microtubule;membrane;mitotic spindle
• Molecular function: microtubule motor activity;ATP binding;microtubule binding;ATPase activity