KATNBL1

katanin regulatory subunit B1 like 1

Basic information

Region (hg38): 15:34140674-34210096

Previous symbols: [ "C15orf29" ]

Links

ENSG00000134152 ∙ NCBI:79768 ∙ OMIM:616235 ∙ HGNC:26199 ∙ Uniprot:Q9H079 ∙ 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 KATNBL1 gene.

• not_specified (40 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KATNBL1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024713.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			39	1		40
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	39	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KATNBL1	protein_coding	protein_coding	ENST00000256544	9	69423

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.725	0.274	125730	0	11	125741	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.731	122	147	0.830	0.00000688	1995
Missense in Polyphen		33	47.538	0.69418		700
Synonymous	2.15	30	49.2	0.610	0.00000219	534
Loss of Function	3.20	3	17.4	0.173	7.97e-7	238

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000885	0.0000879
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulates microtubule-severing activity of KATNAL1 in a concentration-dependent manner in vitro. {ECO:0000269|PubMed:26929214}.

Recessive Scores

• pRec: 0.101

Intolerance Scores

• rvis_EVS: 0.13
• rvis_percentile_EVS: 62.74

Haploinsufficiency Scores

• pHI: 0.220
• hipred: N
• hipred_score: 0.333
• ghis: 0.526

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Katnbl1

Gene ontology

• Biological process: positive regulation of cytoskeleton organization
• Cellular component: nucleus;nucleolus;cytoplasm;mitotic spindle pole
• Molecular function: protein binding