Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
- GO: Molecular function
- GO: Cellular component
- GO: Biological process
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: NF1 ENSDARG00000012982

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Description

neurofibromin 1 [Source:HGNC Symbol;Acc:HGNC:7765]

Location

Chromosome 15: 30,861,647-30,984,804 reverse strand.

GRCz11:CM002899.2

About this gene

This gene has 3 transcripts (splice variants), 210 orthologues, 14 paralogues and is associated with 6 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	Flags
ENSDART00000157005.3	NF1-201	11386	2759aa	ENSDARP00000128480.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, APPRIS ALT2: For genes in which the APPRIS core modules are unable to choose a clear principal isoform, the ALT1 is the candidate transcript(s) models that appear to be conserved in fewer than three tested species. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS ALT2,
ENSDART00000080328.6	NF1-203	8334	2777aa	ENSDARP00000074778.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	APPRIS P5: Where the APPRIS core modules are unable to choose a clear principal variant and none of the candidate variants are annotated by CCDS, APPRIS selects the longest of the candidate isoforms as the principal variant. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P5,
ENSDART00000154448.2	NF1-202	689	59aa	ENSDARP00000128039.1	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,

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Summary

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