HsaINT0078768 @ hg38
Intron Retention
Gene
ENSG00000138413 | IDH1
Description
isocitrate dehydrogenase (NADP(+)) 1, cytosolic [Source:HGNC Symbol;Acc:HGNC:5382]
Coordinates
chr2:208245319-208248660:-
Coord C1 exon
chr2:208248369-208248660
Coord A exon
chr2:208245425-208248368
Coord C2 exon
chr2:208245319-208245424
Length
2944 bp
Sequences
Splice sites
5' ss Seq
CAAGTAAGT
5' ss Score
10.08
3' ss Seq
CCTTTTTCCCCTCTACACAGTAC
3' ss Score
8.69
Exon sequences
Seq C1 exon
CTATGATTTAGGCATAGAGAATCGTGATGCCACCAACGACCAAGTCACCAAGGATGCTGCAGAAGCTATAAAGAAGCATAATGTTGGCGTCAAATGTGCCACTATCACTCCTGATGAGAAGAGGGTTGAGGAGTTCAAGTTGAAACAAATGTGGAAATCACCAAATGGCACCATACGAAATATTCTGGGTGGCACGGTCTTCAGAGAAGCCATTATCTGCAAAAATATCCCCCGGCTTGTGAGTGGATGGGTAAAACCTATCATCATAGGTCGTCATGCTTATGGGGATCAA
Seq A exon
GTAAGTCATGTTGGCAATAATGTGATTTTGCATGTTTTTTTTTTCATGGCCCAGAAATTTCCAACTTGTATGTGTTTTATTCTTATCTTTTGGTATCTACACCCATTAAGCAAGGTATGAAATTGAGAAATGCATATATGTATAACTGTATATTTACACACATTTAGCTAAAGGCAAATACAAATAAACTTACAAATAGGCGTCCATCTCAACACATTTTTTTTCAAACATGCTGTTTTTTTTCCTTTATCCTTTTATTCAGTTATACCATATGATATTGCCATTTTTATGTTGGTAATTTCATATGGTTCAACCAGATCTGTGGTTTTCAACACTGGCTGCACAATAGGATCCCCTTACAAGTTTTTTTGGTGGTTTTGTTTTGCTTTGCTTGATTTGTTTCTTTGTTTTAGTTTCAATGCTTGAGTACCACCCTACACAAATTAAAATCTGAATTCCATGGGGTTCAGGCATTTTAAAGCTCCCCAGGTGAATCTAATGTGCAAACTTGAGAACCACCAAAGATTGTATTAAACATGATCCCATCATGCATAAAAGAAAAAACTGGCTGGGTACTATGGTTCACACCTGTAATCCTAGCACTTTGGAGGCCAATTTGGAAGCACTGCTTGAGGCCAGGAGTTTGAGACTAGCCTGGACAACATAGCAGAACCCTGTCTCTACAAAAATGAAAAGTATTTCAATAATTATGTCAATTGTTCATGGAAGAGCCAGTTTTGTTTATTCATATACAAAGTGAGTAGGCGAAGCTGAGTGGGGTGGCATGTGCCTATAGTCCCAGCTACTTGGAAGGCTGAGGCCTGAGGATCCCTTAAGCCTAGGAGTTCAAGGTTACAGCTATGAGCTATGATCACACCACTGCCTACGCAACAGAGCAAGACCCTGTCTCGAAAAAGAAAAAGAAAAAAAAAACTGACTCGGTAGTTGAAAGCAGCCTTACTAAAGCATTCCTTCCTGCCTGGAAAAAAAGTATTGCTTCTTTACTTCTGTACCAGTACACTTGTTGCCAAATTAAGCAAAAAAACTGCCAAGTAAACAAAATCAAAGTTCAGTGTTGAAACTGAGGTTTCAGACTTTCACAGAAAGTAGTTTATGTCTTAAAAGGACCTTAAAAACAGGAATCTCTCATGCTGAAATCCAGAGGTTTTAATGTAGCCATCATTGAAAACAGTGTGTTGAGGGTAAACAGTTTAGTCCTTGAGGGGTCAGTTAACTTTGTTCCACTCTGTGGCTAAAACTATCCTTTCATCCTGGCCAAAGCCTTCAGAAATAGCTCCCAGGGGCCCAAGCAAGGGAAGGTAGATGGCAGTGGTGCAAACTCGCTAATCTTGTAAAAATCACCCTAGATTCTTTCCAGTTCAGTCGTGCCTTTTTTCTGCGTATATCCTTTTTGTTTTTTGTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCACATGCTACCATGCCCGGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCATGCCACCATGCCCGGCCTTCCTCTTTTTTTTTTTTTTTTTAATTATTTTGGCATCAGTCATTTGTAAAAATGGCCATTCTATTTATTAAAGTCCAGAAAGAGAATTTCAAACCTCAGGTTGATTCATGGACTGTTTAAATATACATAAACCTATACAAAGCATTTATGGTGCTTTGGTACCTCAGTTTCTCCCTTTTCAGAAATAGTAATAAATTACCACCCATATTTACTTTATGGATTTTATATGTCAAAAATGTTCTGTGTAAAGTAGGTGTTTAATCTTTATTGTTACTTACTGCTCTTTTACCAGTTGTTATTAGTATTTCTCTACACTTATAGATGTGGCCGGCACCTGCTGGTACCTAACTCTGCAAGTATCTGATTCAATTCATTGAAGAAGATACAATGCAGCAAAGACTTATGGATGTCTAGTATATGCCAGGCATATTATTCCACTGAGTAGCTGAGGCCCATGAGGGAGGTGCCTGTCCTTGAACAGCCCTTTCCTAAAAATCATCATCATCCCATTGTAGCTGCTCCCAGAATGATTTGATTGCTCCATATGAACAAGTCCTATAACACTAGTAACAATGATACCATGAGAGACCGAGCCCCGATGGCCTAAGTAAGGACGAGACCTCAAGTCCTTTGACCCTGGATGCATTATTTCTACTATATCATAGTTCCCTCCTTGTAAGACTGATGTAAGAATCAAATGAGATTATGCAAGTTAAGCATTTAAAGCATCTGGCATAGAGTAAGGACAAAGCATTAGCTACCTCAGTACTACAATTAGTATTGTTATCATCACCCTCTAGGGAGACTTCCCTGACTTCCTTCCATGGTCACCTCTTTTCCTCTGTCATCCTATAGTTTTTTTTTTTTTGGGGGGGGGGTCTAATACCCTCTTTTGGCATTTGAAAGCTCTTATATTGCTTTTCACTTATATATGTCTTTATAGGGTTGTAAACTTCCTAAAGGAAAGTGGCTTATGTTATTCTCTGTCCTCTTCAAATCAGTGCTCAGAAAACTTTCCTATACCTCGTATAGGCACCTAATAAATATTTACTGATTTAGGGGAATGTCTGGACCTCTTCATCCCCATCTCCTAAAAAAAAAAAAAAAAAAAGAAGTTTGACATACTGCCCTATTTGTCTAGGTGTCTTCTAGGTCTATATTATATGAATATTCTCCTTACAATTCCTGCTAGGGTATTTTTTTTTTCTTTATACCTTTTTCCCCTCTACACAG
Seq C2 exon
TACAGAGCAACTGATTTTGTTGTTCCTGGGCCTGGAAAAGTAGAGATAACCTACACACCAAGTGACGGAACCCAAAAGGTGACATACCTGGTACATAACTTTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138413:ENST00000345146:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.030 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0018015=Iso_dh=FE(24.7=100)
A:
NA
C2:
PF0018015=Iso_dh=FE(8.9=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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