PTTG1IP

PTTG1 interacting protein

Basic information

Region (hg38): 21:44849584-44873903

Previous symbols: [ "C21orf3", "C21orf1" ]

Links

ENSG00000183255 ∙ NCBI:754 ∙ OMIM:603784 ∙ HGNC:13524 ∙ Uniprot:P53801 ∙ 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 PTTG1IP gene.

• Inborn genetic diseases (5 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PTTG1IP 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			4	1	1	6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	1	1

Variants in PTTG1IP

This is a list of pathogenic ClinVar variants found in the PTTG1IP region.

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

Position	Type	Phenotype	Significance	ClinVar
21-44856223-C-T		not specified	Likely benign (Dec 14, 2021)
21-44856245-C-T		not specified	Uncertain significance (May 11, 2022)
21-44856314-G-A		not specified	Uncertain significance (Mar 23, 2022)
21-44856314-G-T		not specified	Uncertain significance (Dec 27, 2023)
21-44856332-C-T		not specified	Uncertain significance (Feb 28, 2024)
21-44861255-G-C			Benign (Nov 02, 2017)
21-44873595-C-T		not specified	Uncertain significance (Nov 01, 2022)
21-44873607-C-T		not specified	Uncertain significance (Sep 01, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PTTG1IP	protein_coding	protein_coding	ENST00000330938	6	24253

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00498	0.895	125729	0	19	125748	0.0000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0543	96	97.5	0.985	0.00000609	1157
Missense in Polyphen		31	38.459	0.80605		403
Synonymous	-0.734	42	36.4	1.15	0.00000231	343
Loss of Function	1.40	5	9.72	0.514	5.11e-7	119

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	0.0000952	0.0000924
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.00	0.00
South Asian	0.0000986	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May facilitate PTTG1 nuclear translocation.
• Pathway: TCR;Fibroblast growth factor-1;EGFR1 (Consensus)

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.607
• rvis_EVS: 0.24
• rvis_percentile_EVS: 68.98

Haploinsufficiency Scores

• pHI: 0.0653
• hipred: Y
• hipred_score: 0.675
• ghis: 0.464

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.963

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Pttg1ip

Zebrafish Information Network

• Gene name: pttg1ipb
• Affected structure: thrombocyte
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: protein import into nucleus;positive regulation of protein ubiquitination;negative regulation of DNA damage response, signal transduction by p53 class mediator;negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator;positive regulation of cellular protein catabolic process
• Cellular component: nucleus;nucleoplasm;cytoplasm;membrane;integral component of membrane;extracellular exosome
• Molecular function: p53 binding;molecular_function;protein binding