Description
neurofibromin 1 [Source:HGNC Symbol;Acc:7765]
Gene Synonyms
NFNS, VRNF, WSS
Location
Chromosome 17: 29,421,945-29,709,134 forward strand.
GRCh37:CM000679.1
About this gene
This gene has 25 transcripts (splice variants) and is associated with 199 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000358273.4 | NF1-001 | 12425 | 2839aa | ENSP00000351015.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS42292 | K7EP94 P21359 Q4W6X4 Q9UMU3 | NM_001042492.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000356175.3 | NF1-002 | 12362 | 2818aa | ENSP00000348498.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS11264 | H0UIC3 K7EP94 P21359 Q4W6X4 Q9UMU3 | NM_000267.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000456735.2 | NF1-003 | 7787 | 2502aa | ENSP00000389907.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0Y465 Q4W6X4 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000431387.4 | NF1-010 | 2889 | 593aa | ENSP00000412921.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS45645 | K7EP94 P21359 Q9UMU3 | NM_001128147.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000444181.2 | NF1-202 | 2028 | 638aa | ENSP00000396481.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DXH1 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000417592.2 | NF1-201 | 1256 | 204aa | ENSP00000398991.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DXP1 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000468273.1 | NF1-013 | 592 | 115aa | ENSP00000464702.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000489712.2 | NF1-023 | 543 | 117aa | ENSP00000467284.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | K7EP94 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000579081.1 | NF1-009 | 8788 | 1656aa | ENSP00000462408.1 | Nonsense mediated decay | H0UIC3 J3KSB5 K7EP94 Q9UMU3 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000495910.2 | NF1-006 | 8223 | 124aa | ENSP00000463682.1 | Nonsense mediated decay | Q7Z3J5 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000471572.2 | NF1-014 | 2028 | 640aa | ENSP00000464678.1 | Nonsense mediated decay | B4DXH1 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000581790.1 | NF1-015 | 1256 | 206aa | ENSP00000462700.1 | Nonsense mediated decay | B4DXP1 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000466819.1 | NF1-007 | 1177 | 227aa | ENSP00000463819.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000479614.1 | NF1-008 | 1114 | 206aa | ENSP00000462157.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000479536.2 | NF1-012 | 811 | 81aa | ENSP00000467080.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000422121.2 | NF1-020 | 619 | 13aa | ENSP00000465138.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000581113.2 | NF1-017 | 1464 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000498569.1 | NF1-021 | 620 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000488981.1 | NF1-022 | 331 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000577967.1 | NF1-016 | 5799 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000493220.1 | NF1-005 | 5691 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000487476.1 | NF1-004 | 2265 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000490416.1 | NF1-011 | 884 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000584328.1 | NF1-018 | 566 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000582892.1 | NF1-019 | 462 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
