TP53I11

tumor protein p53 inducible protein 11

Basic information

Region (hg38): 11:44885902-44951306

Links

ENSG00000175274 ∙ NCBI:9537 ∙ OMIM:617867 ∙ HGNC:16842 ∙ Uniprot:O14683 ∙ 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 TP53I11 gene.

• Inborn genetic diseases (15 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TP53I11 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding			15		2	17
Total	0	0	15	0	2

Variants in TP53I11

This is a list of pathogenic ClinVar variants found in the TP53I11 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-44906430-G-A		not specified	Uncertain significance (Jul 26, 2022)
11-44909729-A-T		not specified	Uncertain significance (Sep 27, 2022)
11-44909745-T-C		not specified	Uncertain significance (Feb 13, 2024)
11-44909757-C-T			Benign (Oct 09, 2017)
11-44909758-C-T		TSPAN18-related disorder	Likely benign (Dec 02, 2019)
11-44909759-G-A		not specified	Uncertain significance (Sep 06, 2022)
11-44909774-G-A		not specified	Uncertain significance (Dec 20, 2021)
11-44909828-G-T		not specified	Uncertain significance (Jan 26, 2022)
11-44909869-C-T		TSPAN18-related disorder	Likely benign (Jun 07, 2019)
11-44909873-C-T		not specified	Uncertain significance (Nov 09, 2022)
11-44917975-T-G		not specified	Uncertain significance (Jun 14, 2023)
11-44917989-G-T		TSPAN18-related disorder	Likely benign (Nov 08, 2019)
11-44918041-G-A		not specified	Uncertain significance (Dec 28, 2022)
11-44919277-G-A		TSPAN18-related disorder	Benign (Oct 17, 2019)
11-44919322-G-A		TSPAN18-related disorder	Benign (Nov 19, 2019)
11-44919844-G-A		not specified	Uncertain significance (Jul 16, 2021)
11-44919940-G-A		not specified	Uncertain significance (Nov 10, 2022)
11-44919955-C-T		not specified	Uncertain significance (Jun 26, 2023)
11-44919959-A-C		not specified	Uncertain significance (Jan 04, 2022)
11-44919967-C-T		not specified	Uncertain significance (Dec 16, 2021)
11-44919969-C-T		TSPAN18-related disorder	Benign (Aug 08, 2019)
11-44926684-C-T		not specified	Uncertain significance (Jun 26, 2023)
11-44926712-C-T			Benign (Oct 09, 2017)
11-44926750-C-T		not specified	Uncertain significance (Jul 20, 2021)
11-44929164-C-T		not specified	Uncertain significance (Jun 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TP53I11	protein_coding	protein_coding	ENST00000533940	6	65387

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.307	0.676	125705	0	3	125708	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.82	59	114	0.519	0.00000737	1205
Missense in Polyphen		19	49.39	0.38469		529
Synonymous	-1.02	60	50.8	1.18	0.00000369	386
Loss of Function	2.02	2	8.26	0.242	4.16e-7	100

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000880	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.0000347	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0657

Intolerance Scores

• loftool: 0.300
• rvis_EVS: -0.27
• rvis_percentile_EVS: 33.97

Haploinsufficiency Scores

• pHI: 0.200
• hipred: N
• hipred_score: 0.459
• ghis: 0.561

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.153

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Trp53i11

Gene ontology

• Biological process: negative regulation of cell population proliferation
• Cellular component: integral component of membrane