AFF1
ALF transcription elongation factor 1
Summary
This gene encodes a member of the AF4/ lymphoid nuclear protein related to the Fragile X E syndrome (FRAXE) family of proteins, which have been implicated in human childhood lymphoblastic leukemia, fragile chromosome X intellectual disability, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
Known Variants145 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs79243012 | 4:87,860,512 | T/C | regulatory region variant | — |
| rs80199341 | 4:87,860,514 | T/G | regulatory region variant | — |
| rs72667737 | 4:87,876,416 | C/T | intron variant | — |
| rs903117011 | 4:87,879,485 | T/G | — | — |
| rs965824 | 4:87,880,096 | G/C | — | — |
| rs34745873 | 4:87,882,815 | A/C | regulatory region variant | — |
| rs7693889 | 4:87,885,401 | G/C | — | — |
| rs181003276 | 4:87,890,628 | C/T | intron variant | — |
| rs55913164 | 4:87,898,930 | T/A | — | — |
| rs17752307 | 4:87,899,285 | T/G | regulatory region variant | — |
| rs34077745 | 4:87,905,696 | G/T | intron variant | — |
| rs13126334 | 4:87,909,890 | A/G | intron variant | — |
| rs143152228 | 4:87,913,610 | C/T | regulatory region variant | — |
| rs529711150 | 4:87,915,951 | T/C | — | — |
| rs149580678 | 4:87,919,711 | T/C | intron variant | — |
| rs13123621 | 4:87,921,757 | C/G | — | — |
| rs340635 | 4:87,931,404 | A/G | regulatory region variant | — |
| rs4693801 | 4:87,932,099 | C/T | regulatory region variant | — |
| rs56406125 | 4:87,940,205 | G/T | intron variant | — |
| rs56390363 | 4:87,943,087 | G/A | intron variant | — |
| rs72667757 | 4:87,946,994 | C/A | regulatory region variant | — |
| rs72667759 | 4:87,952,199 | C/A | — | — |
| rs62306508 | 4:87,956,674 | C/T | intron variant | — |
| rs340630 | 4:87,958,395 | G/A | regulatory region variant | — |
| rs72667765 | 4:87,965,942 | G/A | regulatory region variant | — |
| rs201212946 | 4:87,967,323 | A/G | — | uncertain significance |
| rs372983027 | 4:87,967,326 | A/G | — | uncertain significance |
| rs745920065 | 4:87,967,359 | A/G | — | uncertain significance |
| rs7689167 | 4:87,967,399 | A/G | — | benign |
| rs777476084 | 4:87,967,848 | C/T | — | uncertain significance |
| rs770838039 | 4:87,967,872 | G/A | — | uncertain significance |
| rs1356923618 | 4:87,967,902 | A/G | — | uncertain significance |
| rs560535290 | 4:87,967,926 | C/T | — | uncertain significance |
| rs373948794 | 4:87,967,943 | C/T | — | uncertain significance |
| rs368134000 | 4:87,967,944 | G/A | — | uncertain significance |
| rs150508696 | 4:87,967,977 | C/T | — | uncertain significance |
| rs150065985 | 4:87,968,067 | C/T | — | uncertain significance |
| rs1431682981 | 4:87,968,220 | C/G | — | uncertain significance |
| rs143673312 | 4:87,968,254 | C/T | — | likely benign |
| rs2547860916 | 4:87,968,304 | C/T | — | uncertain significance |
| rs1156973081 | 4:87,968,402 | G/A | — | likely benign |
| rs751020097 | 4:87,968,409 | G/A | — | likely benign |
| rs753869093 | 4:87,968,427 | A/G | — | likely benign |
| rs1331857476 | 4:87,968,492 | A/G | — | uncertain significance |
| rs148617591 | 4:87,968,562 | C/T | — | uncertain significance |
| rs200946563 | 4:87,968,568 | A/T | — | uncertain significance |
| rs754035304 | 4:87,968,670 | C/T | — | uncertain significance |
| rs748144154 | 4:87,968,680 | A/C | — | uncertain significance |
| rs867665772 | 4:87,968,696 | C/T | — | uncertain significance |
| rs141126812 | 4:87,968,728 | G/T | — | uncertain significance |
| rs374948523 | 4:87,968,729 | C/T | — | uncertain significance |
| rs140177406 | 4:87,968,738 | T/A | — | uncertain significance |
| rs867196 | 4:87,971,600 | G/C | intron variant | — |
| rs2007132 | 4:87,972,585 | G/C | — | — |
| rs7660883 | 4:87,982,876 | C/A | — | — |
| rs11946481 | 4:87,984,610 | C/T | intron variant | — |
| rs10018904 | 4:87,986,206 | G/T | — | — |
| rs13120301 | 4:87,986,395 | C/T | intron variant | — |
| rs236679 | 4:87,986,601 | A/T | — | — |
| rs2280953 | 4:87,988,590 | C/T | intron variant | — |
| rs17605615 | 4:87,996,745 | G/A | intron variant | — |
| rs236984 | 4:88,008,614 | G/A | intron variant | — |
| rs375167990 | 4:88,008,832 | C/T | — | — |
| rs1218260982 | 4:88,011,140 | T/C | — | uncertain significance |
| rs370298868 | 4:88,011,172 | A/G | — | uncertain significance |
| rs759126480 | 4:88,011,176 | A/G | — | uncertain significance |
| rs113502077 | 4:88,011,210 | T/C | — | benign |
| rs187382575 | 4:88,011,230 | C/T | — | likely benign |
| rs1724344009 | 4:88,012,961 | G/A | — | uncertain significance |
| rs145877283 | 4:88,016,116 | G/A | — | likely benign |
| rs151450 | 4:88,016,514 | G/T | — | — |
| rs342454 | 4:88,021,500 | T/G | — | — |
| rs60695258 | 4:88,022,709 | C/T | intron variant | — |
| rs71607404 | 4:88,024,333 | T/A | intron variant | — |
| rs2476118684 | 4:88,026,975 | C/G | — | uncertain significance |
| rs1674999 | 4:88,027,650 | G/A | intron variant | — |
| rs778347005 | 4:88,029,313 | C/A | — | uncertain significance |
| rs1726115635 | 4:88,029,349 | A/T | — | uncertain significance |
| rs141720905 | 4:88,029,376 | C/G | — | uncertain significance |
| rs768554619 | 4:88,029,453 | A/T | — | uncertain significance |
| rs442177 | 4:88,030,261 | G/C | — | — |
| rs75921854 | 4:88,032,096 | T/A | intron variant | — |
| rs2149766630 | 4:88,035,579 | C/T | — | uncertain significance |
| rs201993229 | 4:88,035,586 | C/T | — | likely benign |
| rs1726864397 | 4:88,035,601 | C/G | — | uncertain significance |
| rs149255914 | 4:88,035,624 | C/T | — | uncertain significance |
| rs766819377 | 4:88,035,625 | G/A | — | uncertain significance |
| rs770704184 | 4:88,035,664 | G/A | — | uncertain significance |
| rs763614153 | 4:88,035,706 | C/G | — | uncertain significance |
| rs754360670 | 4:88,035,720 | C/T | — | uncertain significance |
| rs372299529 | 4:88,035,732 | G/A | — | uncertain significance |
| rs116537098 | 4:88,035,755 | G/A | — | likely benign |
| rs2476209678 | 4:88,035,766 | A/G | — | uncertain significance |
| rs140196770 | 4:88,035,804 | G/C | — | uncertain significance |
| rs754539931 | 4:88,035,840 | T/C | — | uncertain significance |
| rs1434796616 | 4:88,035,850 | C/T | — | uncertain significance |
| rs113026065 | 4:88,035,864 | A/T | — | likely benign |
| rs750555096 | 4:88,035,888 | G/C | — | uncertain significance |
| rs755910368 | 4:88,035,901 | A/G | — | uncertain significance |
| rs1449532724 | 4:88,035,934 | C/T | — | uncertain significance |
Showing 100 of 145 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.