ADTRP

androgen dependent TFPI regulating protein

Basic information

Region (hg38): 6:11712054-11807046

Previous symbols: [ "C6orf105" ]

Links

ENSG00000111863 ∙ NCBI:84830 ∙ OMIM:614348 ∙ HGNC:21214 ∙ Uniprot:Q96IZ2 ∙ 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 ADTRP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADTRP 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			12	1		13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	13	1	0

Variants in ADTRP

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

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

Position	Type	Phenotype	Significance	ClinVar
6-11714491-T-C		not specified	Uncertain significance (Apr 18, 2023)
6-11714506-A-G		not specified	Uncertain significance (May 15, 2023)
6-11723390-C-A		not specified	Uncertain significance (Dec 19, 2022)
6-11735569-G-T		not specified	Uncertain significance (Jan 31, 2024)
6-11735647-C-T		not specified	Likely benign (Dec 06, 2022)
6-11735664-A-T		not specified	Uncertain significance (Jun 27, 2022)
6-11766294-C-A		not specified	Uncertain significance (Apr 09, 2024)
6-11768342-A-T		not specified	Uncertain significance (Dec 01, 2023)
6-11768361-C-A		not specified	Uncertain significance (Dec 13, 2023)
6-11768373-G-A		not specified	Uncertain significance (Jul 07, 2022)
6-11770075-T-C		not specified	Uncertain significance (Sep 26, 2023)
6-11778626-T-A		not specified	Uncertain significance (Feb 05, 2024)
6-11778683-T-C		not specified	Uncertain significance (Oct 20, 2023)
6-11778731-T-C		not specified	Uncertain significance (Feb 28, 2023)
6-11778737-A-G		not specified	Uncertain significance (Dec 20, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADTRP	protein_coding	protein_coding	ENST00000229583	7	94993

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.10e-7	0.379	125726	0	22	125748	0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.178	128	134	0.957	0.00000678	1613
Missense in Polyphen		40	41.476	0.96442		516
Synonymous	-0.0846	55	54.2	1.01	0.00000310	483
Loss of Function	0.589	11	13.3	0.826	6.31e-7	149

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000584	0.0000584
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000114	0.000114
Middle Eastern	0.000163	0.000163
South Asian	0.000164	0.0000980
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulates the expression and the cell-associated anticoagulant activity of the inhibitor TFPI in endothelial cells (in vitro). {ECO:0000269|PubMed:21868574}.

Recessive Scores

• pRec: 0.0974

Intolerance Scores

• rvis_EVS: 0.44
• rvis_percentile_EVS: 77.7

Haploinsufficiency Scores

• pHI: 0.0339
• hipred: N
• hipred_score: 0.123
• ghis: 0.386

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adtrp

Zebrafish Information Network

• Gene name: adtrp1
• Affected structure: nucleate erythrocyte
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: positive regulation of protein phosphorylation;cell migration involved in sprouting angiogenesis;negative regulation of leukocyte migration;negative regulation of extracellular matrix constituent secretion;positive regulation of gene expression;negative regulation of blood coagulation;long-chain fatty acid catabolic process;protein kinase B signaling;negative regulation of protein secretion;cellular response to steroid hormone stimulus;cellular response to oxidised low-density lipoprotein particle stimulus;negative regulation of leukocyte cell-cell adhesion;negative regulation of lymphocyte migration
• Cellular component: caveola;cell surface;membrane;integral component of membrane
• Molecular function: hydrolase activity