HsaINT0067231 @ hg38
Intron Retention
Gene
ENSG00000128683 | GAD1
Description
glutamate decarboxylase 1 [Source:HGNC Symbol;Acc:HGNC:4092]
Coordinates
chr2:170845506-170845785:+
Coord C1 exon
chr2:170845506-170845621
Coord A exon
chr2:170845622-170845705
Coord C2 exon
chr2:170845706-170845785
Length
84 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
3' ss Seq
CGAGCCTCTGTTTGTTGCAGAGT
3' ss Score
8.22
Exon sequences
Seq C1 exon
GGGGCGCCATATCCAACATGTACAGCATCATGGCTGCTCGCTACAAGTACTTCCCGGAAGTTAAGACAAAGGGCATGGCGGCTGTGCCTAAACTGGTCCTCTTCACCTCAGAACAG
Seq A exon
GTGAGTCGGGGATGCTTTCTCATGGATAGTGGTGTTTTTTAGGGGACTTTCCAACTTCTAACCTCGAGCCTCTGTTTGTTGCAG
Seq C2 exon
AGTCACTATTCCATAAAGAAAGCTGGGGCTGCACTTGGCTTTGGAACTGACAATGTGATTTTGATAAAGTGCAATGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000128683:ENST00000358196:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.007 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0028214=Pyridoxal_deC=FE(10.1=100)
A:
NA
C2:
PF0028214=Pyridoxal_deC=FE(11.2=100)
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:
GGGGCGCCATATCCAACATG
R:
GTCAGTTCCAAAGCCAAGTGC
Band lengths:
167-251
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