Official symbol | ASXL1 |
Gene id | 171023 |
Organism | Homo sapiens |
Official full symbol | ASXL transcriptional regulator 1 |
Gene type | protein-coding |
Also known as | BOPS, MDS |
Summary | This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. |
Genomic regions | Chromosome 20 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
ASXL1-202 | ENST00000375687.10 | 7052 | 1541aa | Protein coding | CCDS13201 | Q8IXJ9-1 | NM_015338.6 | TSL:5, GENCODE basic, APPRIS P2, MANE Select v0.92, |
ASXL1-224 | ENST00000646985.1 | 6666 | 1480aa | Protein coding | CCDS86945 | A0A2R8Y5U1 | - | GENCODE basic, APPRIS ALT2, |
ASXL1-223 | ENST00000646367.1 | 1065 | 85aa | Protein coding | CCDS86944 | Q498B9 | - | GENCODE basic, |
ASXL1-210 | ENST00000613218.4 | 7038 | 1541aa | Protein coding | - | Q8IXJ9-1 | - | TSL:5, GENCODE basic, APPRIS P2, |
ASXL1-201 | ENST00000306058.9 | 6591 | 1536aa | Protein coding | - | Q76L82 | - | TSL:1, GENCODE basic, APPRIS ALT2, |
ASXL1-212 | ENST00000620121.4 | 5374 | 1541aa | Protein coding | - | Q8IXJ9-1 | - | TSL:5, GENCODE basic, APPRIS P2, |
ASXL1-227 | ENST00000651418.1 | 3146 | 625aa | Protein coding | - | A0A494C1R1 | - | GENCODE basic, |
ASXL1-206 | ENST00000542461.5 | 1068 | 85aa | Protein coding | - | Q498B9 | - | TSL:5, GENCODE basic, |
ASXL1-214 | ENST00000643168.1 | 840 | 135aa | Protein coding | - | A0A2R8Y627 | - | CDS 3' incomplete, |
ASXL1-203 | ENST00000375689.5 | 812 | 81aa | Protein coding | - | Q5JWS8 | - | TSL:5, GENCODE basic, |
ASXL1-222 | ENST00000645688.1 | 500 | 78aa | Protein coding | - | A0A2R8Y6V0 | - | CDS 3' incomplete, |
ASXL1-205 | ENST00000497249.6 | 495 | 75aa | Protein coding | - | H0YJC9 | - | TSL:5, GENCODE basic, |
ASXL1-226 | ENST00000649901.1 | 1261 | 57aa | Nonsense mediated decay | - | A0A087WWN0 | - | - |
ASXL1-217 | ENST00000644587.1 | 1076 | 84aa | Nonsense mediated decay | - | Q6P1M8 | - | - |
ASXL1-208 | ENST00000555343.2 | 1034 | 57aa | Nonsense mediated decay | - | A0A087WWN0 | - | TSL:5, |
ASXL1-220 | ENST00000645337.1 | 642 | 85aa | Nonsense mediated decay | - | A0A2R8Y4U9 | - | - |
ASXL1-219 | ENST00000645035.1 | 609 | 75aa | Nonsense mediated decay | - | A0A2R8Y6F0 | - | - |
ASXL1-213 | ENST00000642676.1 | 535 | 57aa | Nonsense mediated decay | - | A0A087WWN0 | - | - |
ASXL1-207 | ENST00000553345.5 | 809 | No protein | Processed transcript | - | - | - | TSL:5, |
ASXL1-225 | ENST00000647223.1 | 8056 | No protein | Retained intron | - | - | - | - |
ASXL1-216 | ENST00000644168.1 | 1466 | No protein | Retained intron | - | - | - | - |
ASXL1-215 | ENST00000644060.1 | 1202 | No protein | Retained intron | - | - | - | - |
ASXL1-204 | ENST00000470145.3 | 1085 | No protein | Retained intron | - | - | - | TSL:5, |
ASXL1-211 | ENST00000619344.4 | 550 | No protein | Retained intron | - | - | - | TSL:5, |
ASXL1-209 | ENST00000555564.2 | 449 | No protein | Retained intron | - | - | - | TSL:4, |
ASXL1-221 | ENST00000645514.1 | 392 | No protein | Retained intron | - | - | - | - |
ASXL1-218 | ENST00000644615.1 | 355 | No protein | Retained intron | - | - | - | - |
Target Gene | ASXL1 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene ASXL1 had been KO in hela cell line. |
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