Description
gephyrin [Source:HGNC Symbol;Acc:15465]
Gene Synonyms
GEPH, GPH, GPHRYN, HKPX1, KIAA1385, MOCODC
Location
Chromosome 14: 66,974,125-67,648,520 forward strand.
GRCh37:CM000676.1
About this gene
This gene has 17 transcripts (splice variants) and is associated with 67 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000478722.1 | GPHN-006 | 4297 | 769aa | ENSP00000417901.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9777 | Q9NQX3 | NM_020806.4 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000315266.5 | GPHN-003 | 4193 | 736aa | ENSP00000312771.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS32103 | Q9NQX3 | NM_001024218.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000543237.1 | GPHN-007 | 2459 | 782aa | ENSP00000438404.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H039 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000305960.9 | GPHN-201 | 2393 | 705aa | ENSP00000303019.9 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8W7D6 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000459628.1 | GPHN-004 | 1723 | 380aa | ENSP00000452220.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V582 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000555456.1 | GPHN-014 | 841 | 280aa | ENSP00000450706.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YJ30 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
ENST00000555503.1 | GPHN-017 | 655 | 201aa | ENSP00000452009.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YJR5 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000556240.1 | GPHN-019 | 404 | 60aa | ENSP00000450442.1 | 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, | |
ENST00000553936.1 | GPHN-010 | 574 | 39aa | ENSP00000451725.1 | Nonsense mediated decay | G3V4D2 | - | - | |
ENST00000555668.1 | GPHN-011 | 550 | 49aa | ENSP00000451935.1 | Nonsense mediated decay | G3V4R0 | - | - | |
ENST00000556633.1 | GPHN-013 | 512 | 50aa | ENSP00000451056.1 | Nonsense mediated decay | G3V355 | - | - | |
ENST00000557654.1 | GPHN-012 | 503 | 49aa | ENSP00000451790.1 | Nonsense mediated decay | G3V4R0 | - | - | |
ENST00000544752.2 | GPHN-008 | 2514 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000556020.1 | GPHN-009 | 562 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000555527.1 | GPHN-016 | 493 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000557678.1 | GPHN-018 | 592 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000556501.1 | GPHN-015 | 435 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |