KIF13B

kinesin family member 13B, the group of Kinesins

Basic information

Region (hg38): 8:29067277-29263124

Links

ENSG00000197892 ∙ NCBI:23303 ∙ OMIM:607350 ∙ HGNC:14405 ∙ Uniprot:Q9NQT8 ∙ 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 KIF13B gene.

• Inborn genetic diseases (71 variants)
• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF13B 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				2	1	3
missense			70	1	2	73
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	70	3	3

Variants in KIF13B

This is a list of pathogenic ClinVar variants found in the KIF13B region.

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

Position	Type	Phenotype	Significance	ClinVar
8-29070565-G-T		not specified	Uncertain significance (Jul 26, 2021)
8-29070566-C-T		not specified	Uncertain significance (Jul 26, 2021)
8-29070607-G-A		not specified	Uncertain significance (Jul 26, 2023)
8-29070658-C-G		not specified	Uncertain significance (Nov 21, 2022)
8-29070682-C-A		not specified	Uncertain significance (Jan 24, 2023)
8-29070730-A-C		not specified	Uncertain significance (Feb 27, 2024)
8-29070748-A-G		not specified	Uncertain significance (Dec 18, 2023)
8-29071671-C-A		not specified	Uncertain significance (Jun 10, 2022)
8-29071682-T-C			Benign (Apr 26, 2018)
8-29071692-C-A		not specified	Uncertain significance (Jan 10, 2023)
8-29071713-C-T		not specified	Uncertain significance (Aug 14, 2023)
8-29071715-G-C		not specified	Uncertain significance (May 05, 2023)
8-29071764-C-T		not specified	Uncertain significance (Nov 07, 2022)
8-29071806-G-C		not specified	Uncertain significance (Feb 05, 2024)
8-29071842-C-A		not specified	Uncertain significance (Jun 06, 2023)
8-29071857-G-T		not specified	Uncertain significance (Aug 16, 2021)
8-29071869-G-C		not specified	Uncertain significance (Dec 28, 2022)
8-29071929-G-A		not specified	Uncertain significance (Mar 05, 2024)
8-29071938-G-A		not specified	Uncertain significance (Jan 04, 2024)
8-29071944-G-A		not specified	Uncertain significance (Jul 17, 2023)
8-29071946-C-G		not specified	Uncertain significance (Dec 14, 2022)
8-29071992-C-T		not specified	Uncertain significance (May 01, 2022)
8-29072007-G-A		not specified	Uncertain significance (Oct 03, 2022)
8-29072037-C-T		not specified	Likely benign (Nov 13, 2023)
8-29072169-G-C		not specified	Uncertain significance (Dec 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIF13B	protein_coding	protein_coding	ENST00000524189	40	195846

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.14e-12	1.00	124643	0	75	124718	0.000301

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.05	821	1.00e+3	0.818	0.0000606	11838
Missense in Polyphen		240	381.15	0.62967		4346
Synonymous	-1.14	427	398	1.07	0.0000261	3546
Loss of Function	5.57	38	97.3	0.391	0.00000542	1115

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000518	0.000516
Ashkenazi Jewish	0.00	0.00
East Asian	0.000460	0.000445
Finnish	0.000664	0.000650
European (Non-Finnish)	0.000312	0.000301
Middle Eastern	0.000460	0.000445
South Asian	0.0000988	0.0000980
Other	0.000331	0.000330

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in reorganization of the cortical cytoskeleton. Regulates axon formation by promoting the formation of extra axons. May be functionally important for the intracellular trafficking of MAGUKs and associated protein complexes. {ECO:0000269|PubMed:20194617}.
• 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;Arf6 signaling events;Intra-Golgi and retrograde Golgi-to-ER traffic (Consensus)

Recessive Scores

• pRec: 0.147

Intolerance Scores

• loftool: 0.165
• rvis_EVS: -1.45
• rvis_percentile_EVS: 3.93

Haploinsufficiency Scores

• pHI: 0.145
• hipred: Y
• hipred_score: 0.614
• ghis: 0.507

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.750

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kif13b
• Phenotype: homeostasis/metabolism phenotype

Gene ontology

• Biological process: protein targeting;microtubule-based movement;signal transduction;T cell activation;regulation of axonogenesis
• Cellular component: cytoplasm;cytosol;kinesin complex;microtubule;microvillus;axon;paranode region of axon
• Molecular function: microtubule motor activity;protein binding;ATP binding;microtubule binding;ATPase activity;protein kinase binding;14-3-3 protein binding