KIF17

kinesin family member 17, the group of Kinesins

Basic information

Region (hg38): 1:20664014-20718017

Links

ENSG00000117245 ∙ NCBI:57576 ∙ OMIM:605037 ∙ HGNC:19167 ∙ Uniprot:Q9P2E2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KIF17 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF17 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					3	3
missense			83	10		93
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				2	1	3
non coding				1		1
Total	0	0	83	11	3

Variants in KIF17

This is a list of pathogenic ClinVar variants found in the KIF17 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-20664624-C-T		not specified	Uncertain significance (Apr 24, 2024)
1-20664670-G-A		not specified	Uncertain significance (Sep 20, 2023)
1-20664724-T-A		not specified	Uncertain significance (Jun 06, 2023)
1-20664750-G-A		not specified	Uncertain significance (Apr 25, 2023)
1-20666245-C-A		not specified	Uncertain significance (Jun 02, 2023)
1-20666301-G-A		not specified	Uncertain significance (May 14, 2024)
1-20666318-T-A		not specified	Uncertain significance (Jan 18, 2023)
1-20670412-G-A		KIF17-related disorder	Likely benign (Feb 18, 2022)
1-20670424-G-A			Benign (Jan 12, 2018)
1-20670458-C-T		not specified	Uncertain significance (May 30, 2023)
1-20671956-T-G		not specified	Uncertain significance (Nov 17, 2022)
1-20671977-T-C		not specified	Uncertain significance (Dec 13, 2021)
1-20672118-G-A		not specified	Uncertain significance (Dec 16, 2023)
1-20672192-C-T		not specified	Uncertain significance (Apr 13, 2022)
1-20682690-C-T		not specified	Uncertain significance (Dec 21, 2022)
1-20682696-T-C		not specified	Uncertain significance (Aug 02, 2021)
1-20682718-C-T			Likely benign (Nov 01, 2022)
1-20682736-C-A		not specified	Uncertain significance (May 01, 2022)
1-20682739-C-T		not specified	Uncertain significance (May 06, 2024)
1-20682786-C-T		not specified	Uncertain significance (Mar 16, 2022)
1-20682787-G-C		not specified	Uncertain significance (Oct 14, 2021)
1-20682801-C-T		not specified	Uncertain significance (Aug 12, 2021)
1-20682810-C-T		not specified	Uncertain significance (Aug 30, 2021)
1-20682832-C-T		not specified	Uncertain significance (Oct 30, 2023)
1-20682862-C-A		not specified	Uncertain significance (Jun 09, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIF17	protein_coding	protein_coding	ENST00000247986	15	54004

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.76e-18	0.130	125306	4	438	125748	0.00176

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.286	602	622	0.968	0.0000431	6632
Missense in Polyphen		215	227.51	0.94503		2300
Synonymous	-0.267	287	281	1.02	0.0000207	2088
Loss of Function	1.28	32	40.8	0.784	0.00000188	487

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00154	0.00153
Ashkenazi Jewish	0.000596	0.000595
East Asian	0.00337	0.00338
Finnish	0.00	0.00
European (Non-Finnish)	0.000366	0.000360
Middle Eastern	0.00337	0.00338
South Asian	0.00944	0.00925
Other	0.000981	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transports vesicles containing N-methyl-D-aspartate (NMDA) receptor 2B along microtubules. {ECO:0000250}.
• Pathway: regulation of spermatogenesis by crem;Intraflagellar transport;Cilium Assembly;Organelle biogenesis and maintenance (Consensus)

Intolerance Scores

• loftool: 0.854
• rvis_EVS: 0.84
• rvis_percentile_EVS: 88.31

Haploinsufficiency Scores

• pHI: 0.0945
• hipred: N
• hipred_score: 0.329
• ghis: 0.428

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.766

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kif17
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Zebrafish Information Network

• Gene name: kif17
• Affected structure: retinal rod cell
• Phenotype tag: abnormal
• Phenotype quality: cellular quality

Gene ontology

• Biological process: microtubule-based movement;vesicle-mediated transport;cell projection organization;intraciliary transport involved in cilium assembly;anterograde dendritic transport of neurotransmitter receptor complex
• Cellular component: cytosol;kinesin complex;microtubule;cilium;axoneme;intraciliary transport particle B;photoreceptor connecting cilium;dendrite cytoplasm;ciliary basal body;neuron projection;periciliary membrane compartment
• Molecular function: microtubule motor activity;ATP binding;microtubule binding;ATP-dependent microtubule motor activity, plus-end-directed;ATPase activity