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.

not_specified (37 variants)

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. These statistics are base on transcript: NM_000012311.4. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			37 clinvar			37
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	37	0	0

Loading clinvar variants...

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
Phenotype

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