TIAL1

TIA1 cytotoxic granule associated RNA binding protein like 1, the group of RNA binding motif containing

Basic information

Region (hg38): 10:119571802-119597029

Links

ENSG00000151923 ∙ NCBI:7073 ∙ OMIM:603413 ∙ HGNC:11804 ∙ Uniprot:Q01085 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 24.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_003252.4	NP_003243.1	12	yes	-
ENST00000436547.7	ENSP00000394902.2	12	yes	-
NM_001033925.2	NP_001029097.1	12	-	-
NM_001323964.2	NP_001310893.1	8	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TIAL1 gene.

• not_specified (17 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TIAL1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_003252.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1			1
missense			17			17
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3			3
Total	0	0	21	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TIAL1	protein_coding	protein_coding	ENST00000369093	12	22343

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.58	66	213	0.310	0.0000105	2579
Missense in Polyphen		8	58.495	0.13676		668
Synonymous	1.23	58	71.2	0.815	0.00000388	699
Loss of Function	4.79	0	26.7	0.00	0.00000132	300

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: RNA-binding protein. Possesses nucleolytic activity against cytotoxic lymphocyte target cells. May be involved in apoptosis.
• Pathway: FGFR2 alternative splicing;Signaling by FGFR2;Signal Transduction;Signaling by FGFR;Signaling by Receptor Tyrosine Kinases (Consensus)

Recessive Scores

• pRec: 0.212

Intolerance Scores

• rvis_EVS: -0.16
• rvis_percentile_EVS: 41.25

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.831

Gene Damage Prediction

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

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;apoptotic process;defense response;germ cell development;positive regulation of cell population proliferation;fibroblast growth factor receptor signaling pathway;stem cell division
• Cellular component: nucleus;nucleoplasm;cytoplasm;lysosome;cytoplasmic stress granule
• Molecular function: DNA binding;RNA binding;AU-rich element binding