KANK4

KN motif and ankyrin repeat domains 4, the group of KN motif and ankyrin repeat domain containing

Basic information

Region (hg38): 1:62236165-62319434

Previous symbols: [ "ANKRD38" ]

Links

ENSG00000132854 ∙ NCBI:163782 ∙ OMIM:614612 ∙ HGNC:27263 ∙ Uniprot:Q5T7N3 ∙ 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 KANK4 gene.

• not_provided (184 variants)
• not_specified (150 variants)
• KANK4-related_disorder (38 variants)
• Nephrotic_syndrome (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KANK4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000181712.5. 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				43	6	49
missense			197	29	3	229
nonsense			4			4
start loss						0
frameshift			4	1		5
splice donor/acceptor (+/-2bp)			1	1		2
Total	0	0	206	74	9

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KANK4	protein_coding	protein_coding	ENST00000371153	9	82435

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.07e-9	0.993	124568	5	1175	125748	0.00470

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.203	541	554	0.976	0.0000301	6457
Missense in Polyphen		89	102.07	0.87195		1107
Synonymous	0.795	226	242	0.935	0.0000151	2059
Loss of Function	2.51	20	36.3	0.551	0.00000191	418

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00709	0.00709
Ashkenazi Jewish	0.00	0.00
East Asian	0.000327	0.000326
Finnish	0.000971	0.000971
European (Non-Finnish)	0.00761	0.00755
Middle Eastern	0.000327	0.000326
South Asian	0.00183	0.00183
Other	0.00360	0.00359

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in the control of cytoskeleton formation by regulating actin polymerization.

Recessive Scores

• pRec: 0.0938

Intolerance Scores

• loftool: 0.819
• rvis_EVS: 0.95
• rvis_percentile_EVS: 89.9

Haploinsufficiency Scores

• pHI: 0.190
• hipred: N
• hipred_score: 0.203
• ghis: 0.428

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0526

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kank4

Gene ontology

• Biological process: negative regulation of actin filament polymerization
• Cellular component: cytoplasm;cytosol;microtubule cytoskeleton