KIFC1
Basic information
Region (hg38): 6:33391823-33409896
Previous symbols: [ "KNSL2" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | 35 | 41 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 1 | |||||
Total | 0 | 0 | 35 | 6 | 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) | ||
6-33403344-G-A | not specified | Uncertain significance (Mar 31, 2024) | ||
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) |
GnomAD
Source:
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:
- 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
- Phenotype
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