FASTK

Fas activated serine/threonine kinase, the group of FASTK mitochondrial RNA binding family

Basic information

Region (hg38): 7:151076624-151080866

Links

ENSG00000164896

∙ NCBI:10922 ∙ OMIM:606965 ∙ HGNC:24676 ∙ Uniprot:Q14296 ∙ 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 FASTK gene.

not_specified (54 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FASTK gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006712.5. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			50 clinvar	4 clinvar		54
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	50	4	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FASTK	protein_coding	protein_coding	ENST00000297532	10	4243

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00472	0.995	125711	0	19	125730	0.0000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.11	214	320	0.669	0.0000200	3397
Missense in Polyphen		59	114.9	0.51348		1413
Synonymous	0.609	123	132	0.933	0.00000697	1258
Loss of Function	3.20	9	26.9	0.334	0.00000164	259

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000188	0.000185
Ashkenazi Jewish	0.000230	0.000198
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000818	0.0000791
Middle Eastern	0.000163	0.000163
South Asian	0.0000330	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Phosphorylates the splicing regulator TIA1, thereby promoting the inclusion of FAS exon 6, which leads to an mRNA encoding a pro-apoptotic form of the receptor. {ECO:0000269|PubMed:17135269, ECO:0000269|PubMed:7544399}.;

Recessive Scores

pRec: 0.208

Intolerance Scores

loftool: 0.673
rvis_EVS: -0.25
rvis_percentile_EVS: 35.99

Haploinsufficiency Scores

pHI: 0.123
hipred: Y
hipred_score: 0.520
ghis: 0.542

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.985

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Fastk
Phenotype: hematopoietic system phenotype; immune system phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process: protein phosphorylation;regulation of RNA splicing;apoptotic signaling pathway
Cellular component: mitochondrial matrix
Molecular function: RNA binding;protein serine/threonine kinase activity;protein binding;ATP binding;Fas-activated serine/threonine kinase activity