KIF9

kinesin family member 9, the group of Kinesins

Basic information

Region (hg38): 3:47227998-47283451

Links

ENSG00000088727 ∙ NCBI:64147 ∙ OMIM:607910 ∙ HGNC:16666 ∙ Uniprot:Q9HAQ2 ∙ 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 KIF9 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF9 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		1
missense			40			40
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	40	1	0

Variants in KIF9

This is a list of pathogenic ClinVar variants found in the KIF9 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-47228702-G-T		not specified	Uncertain significance (Oct 25, 2023)
3-47235544-A-G		not specified	Uncertain significance (Mar 14, 2024)
3-47236044-A-G		not specified	Uncertain significance (May 03, 2023)
3-47236071-C-G		not specified	Uncertain significance (Jul 09, 2021)
3-47236105-T-A		not specified	Uncertain significance (Oct 25, 2023)
3-47236108-C-G		not specified	Uncertain significance (Jan 18, 2023)
3-47236533-G-A		not specified	Uncertain significance (Jun 22, 2023)
3-47236556-A-G		not specified	Uncertain significance (Mar 15, 2024)
3-47236563-G-T		not specified	Uncertain significance (Jun 07, 2023)
3-47240815-A-G		not specified	Uncertain significance (Dec 02, 2022)
3-47240820-C-A		not specified	Uncertain significance (Sep 22, 2023)
3-47240823-C-G		not specified	Uncertain significance (Oct 03, 2022)
3-47240856-C-G		not specified	Uncertain significance (May 30, 2024)
3-47240860-C-T		not specified	Uncertain significance (Feb 28, 2023)
3-47240872-T-C		not specified	Uncertain significance (Aug 15, 2023)
3-47240901-T-A		not specified	Uncertain significance (Aug 15, 2023)
3-47240908-C-T		not specified	Uncertain significance (May 31, 2024)
3-47240989-A-G		not specified	Uncertain significance (Sep 29, 2023)
3-47241004-G-A		not specified	Uncertain significance (Feb 06, 2024)
3-47243061-G-A		not specified	Uncertain significance (Jun 30, 2022)
3-47243084-G-A		not specified	Uncertain significance (Mar 25, 2024)
3-47243121-G-A		not specified	Uncertain significance (May 30, 2022)
3-47244803-T-C		not specified	Uncertain significance (Jan 24, 2024)
3-47244807-A-G		not specified	Uncertain significance (Aug 01, 2022)
3-47244820-C-G		not specified	Uncertain significance (Apr 09, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIF9	protein_coding	protein_coding	ENST00000335044	20	55426

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.48e-22	0.0104	125588	0	160	125748	0.000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.576	418	452	0.924	0.0000252	5218
Missense in Polyphen		108	129.76	0.83233		1522
Synonymous	0.826	158	172	0.920	0.00000944	1476
Loss of Function	0.805	36	41.6	0.865	0.00000195	511

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00195	0.00194
Ashkenazi Jewish	0.000198	0.000198
East Asian	0.00212	0.00212
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000397	0.000396
Middle Eastern	0.00212	0.00212
South Asian	0.000399	0.000392
Other	0.000654	0.000652

dbNSFP

Source: dbNSFP

• 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: 0.975
• rvis_EVS: 0.2
• rvis_percentile_EVS: 67.46

Haploinsufficiency Scores

• pHI: 0.175
• hipred: N
• hipred_score: 0.197
• ghis: 0.499

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.357

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kif9

Gene ontology

• Biological process: microtubule-based movement;extracellular matrix disassembly;regulation of podosome assembly;organelle disassembly
• Cellular component: podosome;cytoplasm;kinesin complex;microtubule;vesicle
• Molecular function: microtubule motor activity;protein binding;ATP binding;microtubule binding;ATPase activity;protein dimerization activity