ACIN1
apoptotic chromatin condensation inducer 1
Summary
Apoptosis is defined by several morphologic nuclear changes, including chromatin condensation and nuclear fragmentation. This gene encodes a nuclear protein that induces apoptotic chromatin condensation after activation by caspase-3, without inducing DNA fragmentation. This protein has also been shown to be a component of a splicing-dependent multiprotein exon junction complex (EJC) that is deposited at splice junctions on mRNAs, as a consequence of pre-mRNA splicing. It may thus be involved in mRNA metabolism associated with splicing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
Known Variants74 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs143234123 | 14:23,528,421 | G/A | — | uncertain significance |
| rs1020804534 | 14:23,528,500 | T/C | — | uncertain significance |
| rs201109870 | 14:23,530,542 | C/A | — | uncertain significance |
| rs939544228 | 14:23,530,575 | C/T | — | uncertain significance |
| rs758108448 | 14:23,530,593 | C/T | — | uncertain significance |
| rs1346701858 | 14:23,530,606 | G/A | — | uncertain significance |
| rs2139994264 | 14:23,530,666 | C/T | — | uncertain significance |
| rs576417486 | 14:23,530,711 | G/A | — | uncertain significance |
| rs377765832 | 14:23,530,775 | C/A | — | uncertain significance |
| rs1315577217 | 14:23,530,815 | C/T | — | uncertain significance |
| rs138390500 | 14:23,531,439 | C/T | — | uncertain significance |
| rs776620841 | 14:23,531,626 | G/A | — | uncertain significance |
| rs563023021 | 14:23,531,675 | C/T | — | uncertain significance |
| rs2503177307 | 14:23,531,693 | C/T | — | uncertain significance |
| rs767802777 | 14:23,532,233 | C/T | — | uncertain significance |
| rs2503184106 | 14:23,532,262 | G/A | — | uncertain significance |
| rs2140016995 | 14:23,533,397 | G/A | — | uncertain significance |
| rs780968847 | 14:23,533,438 | G/A | — | uncertain significance |
| rs945209622 | 14:23,535,181 | C/T | — | uncertain significance |
| rs551895203 | 14:23,535,213 | G/A | — | uncertain significance |
| rs2503215582 | 14:23,535,216 | C/T | — | uncertain significance |
| rs144405076 | 14:23,538,722 | C/T | — | uncertain significance |
| rs755513527 | 14:23,538,723 | G/A | — | uncertain significance |
| rs146137620 | 14:23,538,750 | T/C | — | uncertain significance |
| rs779866160 | 14:23,538,788 | T/C | — | uncertain significance |
| rs139192732 | 14:23,538,798 | T/C | — | uncertain significance |
| rs759647539 | 14:23,547,399 | G/T | — | uncertain significance |
| rs756546652 | 14:23,547,466 | T/G | — | uncertain significance |
| rs149734064 | 14:23,548,087 | C/T | — | uncertain significance |
| rs2503378571 | 14:23,548,157 | C/G | — | uncertain significance |
| rs1357150178 | 14:23,548,162 | G/A | — | uncertain significance |
| rs2503379870 | 14:23,548,205 | T/C | — | uncertain significance |
| rs575472837 | 14:23,548,219 | C/G | — | uncertain significance |
| rs918614053 | 14:23,548,781 | C/T | — | uncertain significance |
| rs1190419213 | 14:23,548,804 | T/A | — | uncertain significance |
| rs752837363 | 14:23,548,874 | G/A | — | uncertain significance |
| rs1405364075 | 14:23,548,914 | G/A | — | uncertain significance |
| rs371741350 | 14:23,548,938 | G/A | — | uncertain significance |
| rs2503398427 | 14:23,549,011 | T/A | — | uncertain significance |
| rs115370646 | 14:23,549,022 | G/A | — | uncertain significance |
| rs199754379 | 14:23,549,039 | G/A | — | uncertain significance |
| rs1301290312 | 14:23,549,045 | C/T | — | uncertain significance |
| rs141420404 | 14:23,549,094 | T/C | — | uncertain significance |
| rs773557474 | 14:23,549,114 | T/C | — | uncertain significance |
| rs150892575 | 14:23,549,165 | A/T | — | uncertain significance |
| rs138326972 | 14:23,549,211 | G/C | — | uncertain significance |
| rs574790490 | 14:23,549,346 | C/T | — | uncertain significance |
| rs61740446 | 14:23,549,405 | A/C | — | uncertain significance |
| rs151153498 | 14:23,549,444 | G/A | — | uncertain significance |
| rs1349509933 | 14:23,549,475 | G/A | — | uncertain significance |
| rs1481347373 | 14:23,549,516 | A/G | — | uncertain significance |
| rs761174298 | 14:23,549,531 | C/T | — | uncertain significance |
| rs750915168 | 14:23,549,606 | T/C | — | uncertain significance |
| rs2047914985 | 14:23,549,670 | T/A | — | uncertain significance |
| rs776139173 | 14:23,549,694 | T/C | — | uncertain significance |
| rs773746914 | 14:23,549,719 | C/T | — | likely benign |
| rs143651664 | 14:23,549,747 | G/A | — | uncertain significance |
| rs774827314 | 14:23,549,798 | T/A | — | uncertain significance |
| rs1416831041 | 14:23,549,803 | C/G | — | uncertain significance |
| rs779741854 | 14:23,549,925 | G/C | — | uncertain significance |
| rs748179758 | 14:23,550,991 | C/T | — | uncertain significance |
| rs768644124 | 14:23,559,196 | G/C | — | uncertain significance |
| rs938325437 | 14:23,559,223 | C/T | — | uncertain significance |
| rs2048188357 | 14:23,559,256 | A/C | — | uncertain significance |
| rs373898368 | 14:23,559,265 | A/T | — | uncertain significance |
| rs772790365 | 14:23,559,295 | G/A | — | uncertain significance |
| rs2503523307 | 14:23,559,770 | G/A | — | uncertain significance |
| rs10130955 | 14:23,562,408 | G/C | upstream gene variant | — |
| rs369290256 | 14:23,564,313 | C/G | — | uncertain significance |
| rs776897734 | 14:23,564,428 | A/G | — | uncertain significance |
| rs115984185 | 14:23,564,430 | C/T | — | likely benign |
| rs1278738198 | 14:23,564,480 | G/C | — | uncertain significance |
| rs1594797223 | 14:23,564,488 | C/A | — | uncertain significance |
| rs2503592039 | 14:23,564,492 | A/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.