KIF27

kinesin family member 27, the group of Kinesins

Basic information

Region (hg38): 9:83834099-83921465

Links

ENSG00000165115 ∙ NCBI:55582 ∙ OMIM:611253 ∙ HGNC:18632 ∙ Uniprot:Q86VH2 ∙ 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 KIF27 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF27 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				1	4	5
missense			79	6	4	89
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	79	7	8

Variants in KIF27

This is a list of pathogenic ClinVar variants found in the KIF27 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-83837029-G-T		not specified	Uncertain significance (Sep 28, 2021)
9-83837086-C-T		not specified	Uncertain significance (Oct 30, 2023)
9-83837128-C-T		not specified	Uncertain significance (Sep 16, 2021)
9-83837152-C-A		not specified	Uncertain significance (May 30, 2024)
9-83837155-T-A		not specified	Uncertain significance (Jul 19, 2023)
9-83837173-C-T		not specified	Uncertain significance (Jun 05, 2023)
9-83837191-G-C		not specified	Uncertain significance (Jun 24, 2022)
9-83837213-T-G		not specified	Uncertain significance (Jun 11, 2024)
9-83837215-G-A		not specified	Uncertain significance (Jun 23, 2023)
9-83837224-T-C		not specified	Uncertain significance (Sep 27, 2021)
9-83837276-G-C		not specified	Uncertain significance (Oct 18, 2021)
9-83837309-G-A		not specified	Uncertain significance (Apr 23, 2024)
9-83837311-A-C		not specified	Uncertain significance (Feb 27, 2023)
9-83837311-A-G		not specified	Uncertain significance (Jul 19, 2022)
9-83837344-G-A		not specified	Uncertain significance (Oct 17, 2023)
9-83837381-C-G		not specified	Uncertain significance (Oct 30, 2023)
9-83842327-A-G		not specified	Uncertain significance (Jan 26, 2022)
9-83842374-G-C		not specified	Uncertain significance (Jul 09, 2021)
9-83842387-C-A		not specified	Uncertain significance (Aug 04, 2023)
9-83850192-G-C		not specified	Uncertain significance (Aug 11, 2022)
9-83850201-C-G		not specified	Uncertain significance (May 09, 2022)
9-83850216-T-C		not specified	Benign (Mar 29, 2016)
9-83850217-A-C		not specified	Uncertain significance (Feb 22, 2023)
9-83850261-A-C		not specified	Uncertain significance (Dec 06, 2022)
9-83853652-T-C		not specified	Uncertain significance (Mar 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIF27	protein_coding	protein_coding	ENST00000297814	17	84730

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.76e-24	0.622	125459	1	288	125748	0.00115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.529	672	712	0.944	0.0000366	9224
Missense in Polyphen		199	200.18	0.99412		2638
Synonymous	0.136	250	253	0.989	0.0000121	2584
Loss of Function	2.27	48	68.2	0.704	0.00000386	848

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00207	0.00206
Ashkenazi Jewish	0.00190	0.00149
East Asian	0.00158	0.00158
Finnish	0.0000929	0.0000924
European (Non-Finnish)	0.000862	0.000853
Middle Eastern	0.00158	0.00158
South Asian	0.00335	0.00314
Other	0.00172	0.00163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays an essential role in motile ciliogenesis. {ECO:0000250}.
• Pathway: Vesicle-mediated transport;Membrane Trafficking;Hedgehog;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: 0.0886

Intolerance Scores

• loftool: 0.978
• rvis_EVS: 0.26
• rvis_percentile_EVS: 69.72

Haploinsufficiency Scores

• pHI: 0.0712
• hipred: N
• hipred_score: 0.428
• ghis: 0.476

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0626

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kif27
• Phenotype: immune system phenotype; hearing/vestibular/ear 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); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); respiratory system phenotype; craniofacial phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: epithelial cilium movement;microtubule-based movement;ventricular system development;cilium assembly
• Cellular component: cytoplasm;kinesin complex;microtubule;cilium
• Molecular function: microtubule motor activity;ATP binding;microtubule binding;ATPase activity