KIN

Kin17 DNA and RNA binding protein

Basic information

Region (hg38): 10:7750962-7787993

Links

ENSG00000151657 ∙ NCBI:22944 ∙ OMIM:601720 ∙ HGNC:6327 ∙ Uniprot:O60870 ∙ 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 KIN gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIN 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						0
missense			20			20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	0	0

Variants in KIN

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

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

Position	Type	Phenotype	Significance	ClinVar
10-7756093-G-C		not specified	Uncertain significance (Oct 12, 2024)
10-7759923-C-G		not specified	Uncertain significance (Aug 14, 2024)
10-7759946-C-T		not specified	Uncertain significance (Jan 05, 2022)
10-7762475-T-A		not specified	Uncertain significance (May 03, 2023)
10-7762526-T-C		not specified	Uncertain significance (May 24, 2024)
10-7763773-T-C		not specified	Uncertain significance (Jan 31, 2024)
10-7766068-G-T		not specified	Uncertain significance (May 03, 2023)
10-7766072-G-A		not specified	Uncertain significance (Apr 07, 2022)
10-7766075-C-T		not specified	Uncertain significance (Dec 14, 2021)
10-7766091-T-C		not specified	Uncertain significance (Oct 31, 2022)
10-7766102-A-G		not specified	Uncertain significance (Oct 01, 2024)
10-7769258-T-G		not specified	Uncertain significance (Aug 05, 2024)
10-7769262-G-C		not specified	Uncertain significance (Nov 25, 2024)
10-7769295-T-C		not specified	Uncertain significance (Jan 24, 2024)
10-7769334-G-A		not specified	Uncertain significance (Jul 14, 2024)
10-7769334-G-T		not specified	Uncertain significance (Aug 02, 2022)
10-7774840-G-C		not specified	Uncertain significance (Feb 28, 2023)
10-7774868-C-A		not specified	Uncertain significance (Jun 13, 2022)
10-7774888-G-A		not specified	Uncertain significance (Dec 20, 2021)
10-7778845-T-C		not specified	Uncertain significance (Oct 12, 2021)
10-7778891-T-C		not specified	Uncertain significance (Mar 20, 2024)
10-7778911-T-C		not specified	Uncertain significance (Dec 03, 2021)
10-7778915-G-C		not specified	Uncertain significance (Jan 24, 2024)
10-7778933-G-C		not specified	Uncertain significance (Jan 23, 2023)
10-7778945-G-A		not specified	Uncertain significance (Sep 14, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIN	protein_coding	protein_coding	ENST00000379562	13	37066

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000102	0.997	125678	0	69	125747	0.000274

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.660	177	204	0.870	0.0000103	2570
Missense in Polyphen		52	70.893	0.7335		963
Synonymous	0.202	71	73.2	0.970	0.00000392	696
Loss of Function	2.65	13	28.1	0.462	0.00000155	338

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000905	0.000899
Ashkenazi Jewish	0.000198	0.000198
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000350	0.000343
Middle Eastern	0.000109	0.000109
South Asian	0.0000656	0.0000653
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in DNA replication and the cellular response to DNA damage. May participate in DNA replication factories and create a bridge between DNA replication and repair mediated by high molecular weight complexes. May play a role in illegitimate recombination and regulation of gene expression. May participate in mRNA processing. Binds, in vitro, to double-stranded DNA. Also shown to bind preferentially to curved DNA in vitro and in vivo (By similarity). Binds via its C-terminal domain to RNA in vitro. {ECO:0000250|UniProtKB:Q8K339, ECO:0000269|PubMed:11880372, ECO:0000269|PubMed:12359749, ECO:0000269|PubMed:12754299, ECO:0000269|PubMed:12853634, ECO:0000269|PubMed:15831485, ECO:0000269|PubMed:17045609}.
• Pathway: Post-translational protein modification;Metabolism of proteins;Protein methylation (Consensus)

Recessive Scores

• pRec: 0.239

Intolerance Scores

• loftool: 0.367
• rvis_EVS: -0.41
• rvis_percentile_EVS: 26.23

Haploinsufficiency Scores

• pHI: 0.230
• hipred: N
• hipred_score: 0.414
• ghis: 0.667

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.917

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kin

Gene ontology

• Biological process: DNA replication;DNA repair;DNA recombination;mRNA processing;cellular response to DNA damage stimulus;viral process
• Cellular component: nucleus;nucleoplasm;cytoplasm;nuclear matrix;protein-containing complex;intracellular membrane-bounded organelle
• Molecular function: DNA binding;double-stranded DNA binding;RNA binding;protein binding;metal ion binding