ATG7
autophagy related 7
Summary
This gene encodes an E1-like activating enzyme that is essential for autophagy and cytoplasmic to vacuole transport. The encoded protein is also thought to modulate p53-dependent cell cycle pathways during prolonged metabolic stress. It has been associated with multiple functions, including axon membrane trafficking, axonal homeostasis, mitophagy, adipose differentiation, and hematopoietic stem cell maintenance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Known Variants82 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs544484285 | 3:11,313,757 | G/A | — | uncertain significance |
| rs346078 | 3:11,327,840 | G/C | downstream gene variant | — |
| rs1470612 | 3:11,336,966 | C/T | upstream gene variant | — |
| rs2594994 | 3:11,339,960 | T/C | — | — |
| rs754732179 | 3:11,340,183 | C/T | — | likely benign |
| rs765909221 | 3:11,340,252 | A/T | — | uncertain significance |
| rs1022243200 | 3:11,340,271 | G/T | — | uncertain significance |
| rs199691725 | 3:11,340,859 | C/T | — | uncertain significance |
| rs1334939133 | 3:11,340,876 | C/G | — | uncertain significance |
| rs11706903 | 3:11,343,551 | C/A | intron variant | — |
| rs202020977 | 3:11,348,425 | C/A | — | uncertain significance |
| rs780153681 | 3:11,348,428 | C/T | — | uncertain significance |
| rs993394420 | 3:11,348,434 | C/T | — | uncertain significance |
| rs143084842 | 3:11,354,815 | A/G | — | uncertain significance |
| rs2470623835 | 3:11,354,857 | G/A | — | uncertain significance |
| rs1948959876 | 3:11,354,880 | T/C | — | uncertain significance |
| rs201384830 | 3:11,354,885 | A/G | — | likely benign |
| rs1023542528 | 3:11,356,944 | T/A | — | uncertain significance |
| rs2606755 | 3:11,358,566 | G/T | — | — |
| rs2606750 | 3:11,372,151 | T/C | intron variant | — |
| rs371102575 | 3:11,372,820 | A/G | — | likely benign |
| rs1445573825 | 3:11,372,847 | G/A | — | uncertain significance |
| rs79941725 | 3:11,372,894 | C/T | — | benign |
| rs2152756968 | 3:11,374,460 | A/G | — | pathogenic |
| rs2470901364 | 3:11,374,463 | C/G | — | uncertain significance |
| rs557927590 | 3:11,374,484 | G/A | — | uncertain significance |
| rs142220561 | 3:11,374,551 | A/G | — | likely benign |
| rs1441737523 | 3:11,374,564 | C/G | — | uncertain significance |
| rs187148771 | 3:11,382,111 | G/T | — | benign |
| rs191209427 | 3:11,382,112 | C/T | — | benign |
| rs1953406261 | 3:11,382,128 | A/T | — | uncertain significance |
| rs144415880 | 3:11,382,205 | A/C | — | likely benign |
| rs1285028235 | 3:11,383,671 | T/C | — | uncertain significance |
| rs780547280 | 3:11,383,718 | G/A | — | uncertain significance |
| rs1229931602 | 3:11,389,352 | G/A | — | uncertain significance |
| rs997601405 | 3:11,389,372 | A/C | — | uncertain significance |
| rs1222112266 | 3:11,389,397 | C/T | — | uncertain significance |
| rs2471087263 | 3:11,389,411 | G/A | — | uncertain significance |
| rs138448027 | 3:11,389,448 | G/T | — | uncertain significance |
| rs773870148 | 3:11,389,451 | G/A | — | uncertain significance |
| rs200661669 | 3:11,389,478 | C/T | — | uncertain significance |
| rs200554907 | 3:11,389,484 | G/A | — | uncertain significance |
| rs1954829367 | 3:11,389,486 | C/T | — | uncertain significance |
| rs143545741 | 3:11,389,502 | C/T | — | conflicting classifications of pathogenicity |
| rs373763483 | 3:11,389,503 | C/T | — | likely benign |
| rs2084466 | 3:11,390,375 | A/G | regulatory region variant | — |
| rs2594973 | 3:11,395,821 | C/G | intron variant | — |
| rs2594972 | 3:11,397,417 | A/G | intron variant | — |
| rs1451328716 | 3:11,399,896 | C/T | — | uncertain significance |
| rs2076074959 | 3:11,399,908 | A/G | — | uncertain significance |
| rs2076078143 | 3:11,399,950 | G/A | — | uncertain significance |
| rs372998209 | 3:11,399,970 | C/T | — | uncertain significance |
| rs772454167 | 3:11,399,971 | G/A | — | uncertain significance |
| rs770843245 | 3:11,400,007 | G/C | — | uncertain significance |
| rs36117895 | 3:11,400,019 | T/C | — | likely benign |
| rs376459821 | 3:11,400,063 | G/A | — | uncertain significance |
| rs146006185 | 3:11,400,085 | A/G | — | uncertain significance |
| rs2606736 | 3:11,400,249 | C/A | — | — |
| rs2471244730 | 3:11,402,055 | C/T | — | likely benign |
| rs2152811529 | 3:11,402,107 | G/A | — | pathogenic |
| rs2152811539 | 3:11,402,110 | T/C | — | uncertain significance |
| rs146589465 | 3:11,402,141 | C/G | — | conflicting classifications of pathogenicity |
| rs35807939 | 3:11,402,163 | G/A | — | likely benign |
| rs752093920 | 3:11,402,200 | A/G | — | uncertain significance |
| rs975417304 | 3:11,402,236 | A/G | — | uncertain significance |
| rs142493104 | 3:11,404,330 | G/A | — | pathogenic |
| rs200507249 | 3:11,404,377 | G/A | — | uncertain significance |
| rs201411636 | 3:11,406,160 | C/T | — | benign |
| rs777067201 | 3:11,406,203 | C/T | — | pathogenic |
| rs7632040 | 3:11,427,455 | A/G | regulatory region variant | — |
| rs6768611 | 3:11,434,465 | G/A | regulatory region variant | — |
| rs201706487 | 3:11,468,296 | C/T | — | pathogenic |
| rs370184345 | 3:11,468,297 | G/A | — | uncertain significance |
| rs2082402742 | 3:11,468,299 | G/A | — | uncertain significance |
| rs7632902 | 3:11,476,884 | T/C | intron variant | — |
| rs9836167 | 3:11,493,392 | C/T | intron variant | — |
| rs375156407 | 3:11,524,873 | G/A | — | — |
| rs4684784 | 3:11,527,942 | C/T | downstream gene variant | — |
| rs2447606 | 3:11,553,020 | T/G | — | — |
| rs4684787 | 3:11,579,865 | C/T | intron variant | — |
| rs200074530 | 3:11,596,283 | A/G | — | pathogenic |
| rs570582042 | 3:11,596,296 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.