FASTK

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

Basic information

Region (hg38): 7:151076623-151080866

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.

• Inborn genetic diseases (18 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.

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			17	1		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	1	0

Variants in FASTK

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

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

Position	Type	Phenotype	Significance	ClinVar
7-151076747-C-T		not specified	Uncertain significance (Mar 01, 2023)
7-151076980-C-T		not specified	Uncertain significance (Aug 09, 2021)
7-151077117-G-C		not specified	Uncertain significance (Oct 25, 2022)
7-151077195-C-A		not specified	Uncertain significance (Jun 02, 2023)
7-151077222-C-T		not specified	Uncertain significance (Sep 07, 2022)
7-151077340-C-T		not specified	Uncertain significance (Jan 19, 2022)
7-151077630-C-G		not specified	Uncertain significance (Dec 03, 2021)
7-151077633-C-T		not specified	Uncertain significance (Nov 19, 2022)
7-151077657-T-G		not specified	Uncertain significance (Jun 24, 2022)
7-151077663-A-C		not specified	Uncertain significance (Feb 06, 2023)
7-151077772-G-A		not specified	Uncertain significance (May 25, 2022)
7-151077885-T-C		not specified	Likely benign (Oct 26, 2022)
7-151077933-G-T		not specified	Uncertain significance (Jun 09, 2022)
7-151078635-C-T		not specified	Uncertain significance (Dec 08, 2023)
7-151078944-G-C		not specified	Uncertain significance (Dec 12, 2023)
7-151078947-G-T		not specified	Uncertain significance (Dec 13, 2022)
7-151078962-G-A		not specified	Uncertain significance (Aug 19, 2023)
7-151079769-G-C		not specified	Uncertain significance (Dec 03, 2021)
7-151079835-G-A		not specified	Uncertain significance (Oct 05, 2023)
7-151079902-T-A		not specified	Uncertain significance (Feb 28, 2024)
7-151079902-T-C		not specified	Uncertain significance (Nov 29, 2021)
7-151080708-G-C		not specified	Uncertain significance (Dec 22, 2023)
7-151080724-G-A		not specified	Uncertain significance (Dec 27, 2022)
7-151080756-G-C		not specified	Uncertain significance (Jun 26, 2023)

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