Special

HsaINT0067244 @ hg19

Intron Retention

Gene
Description
glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) [Source:HGNC Symbol;Acc:4093]
Coordinates
chr10:26581394-26581920:+
Coord C1 exon
chr10:26581394-26581501
Coord A exon
chr10:26581502-26581830
Coord C2 exon
chr10:26581831-26581920
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-GAD2:NM_000818:14
Average complexity
IR-S
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


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
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