ADTRP
Basic information
Region (hg38): 6:11712054-11807046
Previous symbols: [ "C6orf105" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (31 variants)
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. These statistics are base on transcript: NM_000032744.4. 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 | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 26 | 28 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 26 | 2 | 0 |
GnomAD
Source:
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:
- 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
- loftool
- 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
- Phenotype
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