HsaINT0067244 @ hg38
Intron Retention
Gene
ENSG00000136750 | GAD2
Description
glutamate decarboxylase 2 [Source:HGNC Symbol;Acc:HGNC:4093]
Coordinates
chr10:26292465-26292991:+
Coord C1 exon
chr10:26292465-26292572
Coord A exon
chr10:26292573-26292901
Coord C2 exon
chr10:26292902-26292991
Length
329 bp
Sequences
Splice sites
5' ss Seq
AAGGTATGT
5' ss Score
9.79
3' ss Seq
TCTTCCTTTCCTCTTTGTAGCCT
3' ss Score
10.09
Exon sequences
Seq C1 exon
GGGACTACCGGGTTTGAAGCGCATGTTGATAAATGTTTGGAGTTGGCAGAGTATTTATACAACATCATAAAAAACCGAGAAGGATATGAGATGGTGTTTGATGGGAAG
Seq A exon
GTATGTATTTGGATTTCTACAATCTCAGAAAGTTTAGTCAATTCCAACCCTCATCACTGATATGATGTAAATGATGTGCTGTCCAGGTAAGTGGGACGATTACAGAGGGGAGCAGTGGATGACGGGGTAGCTATTCCAAGCTGGAATAAAGACGAAACTCTCAAAGTGGTCCATATAACGTTGTCAAAATCATGCCCTCCAATGGCAATTCCTGATTGAAAAGTGGGAATTGTGTTCTGAACCTGCTGAATACATCGATTTGAAATGTTCTTGGAATTTTCAAAATTGCCAGCCTGGGCCAAATGTGAATCTTCCTTTCCTCTTTGTAG
Seq C2 exon
CCTCAGCACACAAATGTCTGCTTCTGGTACATTCCTCCAAGCTTGCGTACTCTGGAAGACAATGAAGAGAGAATGAGTCGCCTCTCGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136750:ENST00000376261:14
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0028214=Pyridoxal_deC=FE(9.4=100)
A:
NA
C2:
PF0028214=Pyridoxal_deC=PD(2.7=33.3)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGACTACCGGGTTTGAAGCG
R:
AGGCGACTCATTCTCTCTTCA
Band lengths:
190-519
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development