Description
non imprinted in Prader-Willi/Angelman syndrome 1 [Source:HGNC Symbol;Acc:17043]
Gene Synonyms
FSP3, MGC35570, SPG6
Location
Chromosome 15: 23,043,277-23,100,005 reverse strand.
GRCh37:CM000677.1
About this gene
This gene has 8 transcripts (splice variants), 5 paralogues and is associated with 3 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000437912.2 | NIPA1-004 | 7613 | 254aa | ENSP00000393962.2 | Protein coding | CCDS45190 | Q3SYP4 Q7RTP0 | - | GENCODE basic, |
| ENST00000337435.4 | NIPA1-001 | 6567 | 329aa | ENSP00000337452.4 | Protein coding | CCDS10011 | Q3SYP4 Q7RTP0 | NM_144599.4 | GENCODE basic, |
| ENST00000538684.1 | NIPA1-201 | 2797 | 159aa | ENSP00000440957.1 | Protein coding | Q3SYP4 | - | GENCODE basic, | |
| ENST00000561183.1 | NIPA1-003 | 1675 | 254aa | ENSP00000453722.1 | Protein coding | CCDS45190 | Q3SYP4 Q7RTP0 | - | GENCODE basic, |
| ENST00000559448.1 | NIPA1-002 | 2799 | 90aa | ENSP00000453286.1 | Nonsense mediated decay | - | - | CDS 5' incomplete, | |
| ENST00000557930.1 | NIPA1-007 | 582 | 58aa | ENSP00000453797.1 | Nonsense mediated decay | H0YLJ9 H0YMY7 | - | CDS 5' incomplete, | |
| ENST00000560069.1 | NIPA1-008 | 575 | 35aa | ENSP00000453237.1 | Nonsense mediated decay | H0YLJ9 | - | - | |
| ENST00000560105.1 | NIPA1-006 | 375 | No protein | - | Retained intron | - | - | - |
