ADAM12
Basic information
Region (hg38): 10:126012381-126388477
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (103 variants)
- not_provided (8 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAM12 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001288973.2. 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 | 5 | |||||
missense | 96 | 105 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 96 | 9 | 5 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ADAM12 | protein_coding | protein_coding | ENST00000368679 | 23 | 376075 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
5.73e-7 | 1.00 | 125705 | 0 | 43 | 125748 | 0.000171 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.27 | 438 | 519 | 0.843 | 0.0000297 | 5925 |
Missense in Polyphen | 152 | 222.91 | 0.6819 | 2491 | ||
Synonymous | 0.103 | 196 | 198 | 0.991 | 0.0000123 | 1774 |
Loss of Function | 3.77 | 19 | 46.9 | 0.405 | 0.00000245 | 551 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000181 | 0.000181 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000272 | 0.000272 |
Finnish | 0.000185 | 0.000185 |
European (Non-Finnish) | 0.000221 | 0.000220 |
Middle Eastern | 0.000272 | 0.000272 |
South Asian | 0.000164 | 0.000163 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Involved in skeletal muscle regeneration, specifically at the onset of cell fusion. Also involved in macrophage-derived giant cells (MGC) and osteoclast formation from mononuclear precursors (By similarity). {ECO:0000250}.;
- Pathway
- Signal Transduction;role of egf receptor transactivation by gpcrs in cardiac hypertrophy;Invadopodia formation;Extracellular matrix organization;Signaling by EGFR;Notch signaling pathway;Signaling by Receptor Tyrosine Kinases;Alpha9 beta1 integrin signaling events;Syndecan-4-mediated signaling events
(Consensus)
Recessive Scores
- pRec
- 0.232
Intolerance Scores
- loftool
- 0.320
- rvis_EVS
- 0.01
- rvis_percentile_EVS
- 54.16
Haploinsufficiency Scores
- pHI
- 0.654
- hipred
- Y
- hipred_score
- 0.718
- ghis
- 0.461
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.436
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Adam12
- Phenotype
- adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); muscle phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); vision/eye phenotype;
Gene ontology
- Biological process
- proteolysis;cell adhesion;myoblast fusion;extracellular matrix organization;positive regulation of angiogenesis
- Cellular component
- extracellular region;nucleoplasm;plasma membrane;integral component of membrane
- Molecular function
- metalloendopeptidase activity;metallopeptidase activity;SH3 domain binding;metal ion binding