HsaINT0067239 @ hg19
Intron Retention
Gene
ENSG00000136750 | GAD2
Description
glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) [Source:HGNC Symbol;Acc:4093]
Coordinates
chr10:26505236-26506598:+
Coord C1 exon
chr10:26505236-26505814
Coord A exon
chr10:26505815-26506538
Coord C2 exon
chr10:26506539-26506598
Length
724 bp
Sequences
Splice sites
5' ss Seq
CAGGTAGGA
5' ss Score
9.79
3' ss Seq
CTGCCTATTCTTCCTTGCAGCGC
3' ss Score
10.96
Exon sequences
Seq C1 exon
GCGGCCGCCCGCACTTCCCGCCTCTGGCTCGCCCGAGGACGCGCTGGCACGCCTCCCACCCCCTCACTCTGACTCCAGCTGGCGTGCATGGTCTGCCTCGCATCCTCACGACTCAGCTCCCTCCCTCTCTCGTGTTTTTTTCCTCCGCCGCCCCCTCATTCATCCCCACTGGGCTCCCTTTCCCTCAAATGCTCTGGGGCTCTCCGCGCTTTCCTGAGTCCGGGCTCCGAGGACCCTTAGGTAGTCCCGGTCTCTTTTAAAGCTCCCCGGCTTCCAAAGGGTTGCCACGTCCCTAAACCCTGTCTCCAGCTCGCATACACACACGCACAGACACGCACGTTTTCTGTTCCTGCGTGACACCCGCCCTCGCCGCTCGGCCCCGCCGGTCCCCGCGCGGTGCCCTCCTCCCGCCACACGGGCACGCACGCGCGCGCAGGGCCAAGCCCGAGGCAGCTCGCCCGCAGCTCGCACTCGCAGGCGACCTGCTCCAGTCTCCAAAGCCGATGGCATCTCCGGGCTCTGGCTTTTGGTCTTTCGGGTCGGAAGATGGCTCTGGGGATTCCGAGAATCCCGGCACAG
Seq A exon
GTAGGAAGGAGAACGGGGGCCTGCGGCGGGCGAGTTTTGCGGTGGTCTGGGGTTTGCGGAACTACGGAGAAGACGAAGGAGGTTTTTCCACCTGCAACAGGAAACTTCTTCGGGCGCTTCTCCCTGCTTTTGGGCTAAGTCCTTGACGGCCCAAGAGCTCAAGACCTCTACAGCCTCTTGTACCCTGGGAAGACGCCCAAATAGTCTCAGGCCCGTTCCACAGAAGGTTGGAAGAGCCCCCCAAAGACCGCGGTGTCTCGGGGACATGGAATTCCGTGGTCCTGGGGCGCTGCTAAGATCCGGGTGTCTGGACCCTGGGGTGGGACGGAGTGACCGTGAAGATAGAAAAAAAAAATGGGAAAGGTGAGAGATTTCTTTATCTAGAAAGACAGTCTGCGAAAAAATGGATAGCTTCAGTGTTTAGGAAAACTCGTCCAAGGTAGGCAGGGAGAGGAATTTGCCTGAGCCGATTGGCACCTGGAAGGGCAGCGGTGTGGGCTTCTCCTCGGGAAACAGATAAAGGAAATGAGGGCTGGCCCGGGCCGCCAGCCTCCCGCTTGCCTTCTGCACCTGCCGGCCTCACCGAGTCCTGAGCGGCCCCCAGGAGGAAGGCGGCCCCTCCTAGGACCCCGGACTGATTGATTTTCACATAGAACGAAATTTCACACGTCCGTCTGTTGTTCTCTTTCTGCCTCGCTGTCTGCCTGCCTATTCTTCCTTGCAG
Seq C2 exon
CGCGAGCCTGGTGCCAAGTGGCTCAGAAGTTCACGGGCGGCATCGGAAACAAACTGTGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136750-GAD2:NM_000818:1
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.423 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGTCCCTAAACCCTGTCTCCA
R:
GCACAGTTTGTTTCCGATGCC
Band lengths:
351-1075
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)