SARM1
sterile alpha and TIR motif containing 1, the group of Armadillo like helical domain containing|TIR domain containing|Sterile alpha motif domain containing
Basic information
Region (hg38): 17:28364356-28404049
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Congenital_defect_of_folate_absorption (26 variants)
- not_provided (2 variants)
- not_specified (2 variants)
- Amyotrophic_lateral_sclerosis (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SARM1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015077.4. 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 | 2 | |||||
| missense | 7 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 8 | 1 | 0 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| SARM1 | protein_coding | protein_coding | ENST00000457710 | 9 | 36688 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.70e-10 | 0.380 | 5545 | 120044 | 4 | 125593 | 0.790 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.90 | 269 | 372 | 0.722 | 0.0000226 | 4301 |
| Missense in Polyphen | 107 | 152.61 | 0.70113 | 1712 | ||
| Synonymous | 1.69 | 141 | 169 | 0.834 | 0.0000105 | 1511 |
| Loss of Function | 1.03 | 18 | 23.4 | 0.770 | 0.00000104 | 278 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 4.00 | 2.68 |
| Ashkenazi Jewish | 2.00 | 0.794 |
| East Asian | 2.00 | 0.834 |
| Finnish | 2.00 | 0.817 |
| European (Non-Finnish) | 2.00 | 0.794 |
| Middle Eastern | 2.00 | 0.834 |
| South Asian | 2.00 | 0.771 |
| Other | 2.00 | 0.806 |
dbNSFP
Source:
- Function
- FUNCTION: Negative regulator of MYD88- and TRIF-dependent toll- like receptor signaling pathway which plays a pivotal role in activating axonal degeneration following injury. Promotes Wallerian degeneration an injury-induced axonal death pathway which involves degeneration of an axon distal to the injury site. Can activate neuronal death in response to stress. Regulates dendritic arborization through the MAPK4-JNK pathway. Involved in innate immune response. Inhibits both TICAM1/TRIF- and MYD88- dependent activation of JUN/AP-1, TRIF-dependent activation of NF- kappa-B and IRF3, and the phosphorylation of MAPK14/p38. {ECO:0000269|PubMed:15123841, ECO:0000269|PubMed:16964262, ECO:0000269|PubMed:16985498, ECO:0000269|PubMed:20306472}.;
- Pathway
- Regulation of toll-like receptor signaling pathway;Toll Like Receptor 3 (TLR3) Cascade;Toll-Like Receptors Cascades;Innate Immune System;Immune System;Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon;IKK complex recruitment mediated by RIP1;TRAF6-mediated induction of TAK1 complex within TLR4 complex;TRIF(TICAM1)-mediated TLR4 signaling ;MyD88-independent TLR4 cascade ;Toll Like Receptor 4 (TLR4) Cascade
(Consensus)
Recessive Scores
- pRec
- 0.125
Haploinsufficiency Scores
- pHI
- 0.198
- hipred
- N
- hipred_score
- 0.439
- ghis
- 0.540
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.779
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Sarm1
- Phenotype
- immune system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs 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); hematopoietic system phenotype; cellular phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- signal transduction;response to glucose;positive regulation of signal transduction;negative regulation of MyD88-independent toll-like receptor signaling pathway;regulation of apoptotic process;innate immune response;response to axon injury;regulation of dendrite morphogenesis;regulation of neuron death
- Cellular component
- cytoplasm;mitochondrion;cytosol;microtubule;cell junction;axon;dendrite;extrinsic component of mitochondrial outer membrane;synapse
- Molecular function
- protein binding;signaling adaptor activity