HsaINT1016152 @ hg38
Intron Retention
Gene
ENSG00000138413 | IDH1
Description
isocitrate dehydrogenase (NADP(+)) 1, cytosolic [Source:HGNC Symbol;Acc:HGNC:5382]
Coordinates
chr2:208241994-208243604:-
Coord C1 exon
chr2:208243427-208243604
Coord A exon
chr2:208242146-208243426
Coord C2 exon
chr2:208241994-208242145
Length
1281 bp
Sequences
Splice sites
5' ss Seq
CAAGTAACT
5' ss Score
4.45
3' ss Seq
TTTTACCTTTTGTTTCCCAGGCA
3' ss Score
10.22
Exon sequences
Seq C1 exon
AAGGTGGTGGTGTTGCCATGGGGATGTATAATCAAGATAAGTCAATTGAAGATTTTGCACACAGTTCCTTCCAAATGGCTCTGTCTAAGGGTTGGCCTTTGTATCTGAGCACCAAAAACACTATTCTGAAGAAATATGATGGGCGTTTTAAAGACATCTTTCAGGAGATATATGACAA
Seq A exon
GTAACTATAGTTCTTTTTTAACTTTTTCTTTATTCTCAAGTAAGCTGACATTTGCATATAGAGTATGTATCTCCCTATCCCTATGATTCTGGGTAAATTGAGTGAAAATCATCACTGTCTCTTAAAGATAAGGGCAAAACTGAGGTTTAGCAGGAGTGAAACAAAACCACTCTGACTTGCTTTTATAAGATAAACATGTTCTTAAATAAGGTCCCCACATGAATTGTTTTCAGAGCCAGGTTCTTTAATGTTTAAATAAACGTACGCTGTTAGTGATAAGTTCTAATTTTTCATGTGTGAGTTTCTAAGTCAGACCCATTTCCATTCTTTCTGAAGCCCATTGTTAGAATTTAAAATTCTGTTGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGACTCTACTAAAAATACCAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTCTAGTCCCAGTTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAAATCACGCCACTGCACTGCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAATTTAAAATTCTGTTTTAGTGGAGTCATTTGAACTTAAGTCTAAGTTTATAACAACACTGGCTTCCACAGCACAGGAGGTGAGCATGTGTTAATATTTAAGATTGGCATAACTCCCTTTAGGTGCAAGTGTTCAGGCCAAAATGTTCCTGAGGCATTTTGATTCCTCCTCCTGCTGCCCATCTATACCAAGCCCAGAAACTGTCTGGAATATATTTTAGTTTCCTGAATGACACCAAGAAGTAGAACAGTCTTTTCAAAAATGTATTTTAAAAATAAGCTGAATCTCAAGAATCTGATCTATAGTATAATGAAAACTGAAAAGTGAAGTAGTCATTGGGATACTCTACTGTCTCACTTAATTCTCACGGCTTCCCTGCAAGGTGGGTAAAATTGTTCCTACAGATAGTCAAATTGAGTTTTACAGTTAGAAAATGATTGGGCTAGGATTTGAGCCAATGTCTGTCAGATTCCTGAGTTTCTGCTACTTCTACTAAAATATGCTGCTTCTTGTGTGTCCGGTCTTCTGTTTGGGACAAGCAGATGATATCCCTAACAAAATCAATTTTCTTTATTATTATTCTCTTTTACCTTTTGTTTCCCAG
Seq C2 exon
GCAGTACAAGTCCCAGTTTGAAGCTCAAAAGATCTGGTATGAGCATAGGCTCATCGACGACATGGTGGCCCAAGCTATGAAATCAGAGGGAGGCTTCATCTGGGCCTGTAAAAACTATGATGGTGACGTGCAGTCGGACTCTGTGGCCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138413:ENST00000345146:6
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:
PF0018015=Iso_dh=FE(15.0=100)
A:
NA
C2:
PF0018015=Iso_dh=FE(13.0=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGGTGGTGGTGTTGCCA
R:
CTTGGGCCACAGAGTCCGA
Band lengths:
330-1611
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains