HsaINT1028726 @ hg38
Intron Retention
Gene
ENSG00000136933 | RABEPK
Description
Rab9 effector protein with kelch motifs [Source:HGNC Symbol;Acc:HGNC:16896]
Coordinates
chr9:125213370-125220700:+
Coord C1 exon
chr9:125213370-125213522
Coord A exon
chr9:125213523-125220538
Coord C2 exon
chr9:125220539-125220700
Length
7016 bp
Sequences
Splice sites
5' ss Seq
CTGGTAAGT
5' ss Score
10.65
3' ss Seq
CTGCATTCTCTCTGGCCCAGAAA
3' ss Score
5.97
Exon sequences
Seq C1 exon
GAAAACACCAGTGGGACTTAGATACCTGCAAGGGCCTCTTGCCCCGGTATGAACATGCTAGCTTCATTCCCTCCTGCACACCTGACCGTATCTGGGTATTTGGAGGTGCCAACCAATCAGGAAATCGAAATTGTCTACAAGTCCTGAATCCTG
Seq A exon
GTAAGTAGCCAAAGGTTATTTTATTTACGTACATACAAATAAACTTTCATGCACACACACACACATATATATAAATCCAATTATAATTCCAGTACATTTGGATTATACTAATTACCATTTAACTTTGCTGACATAGAAAATAGGAATTTTAACTTGTAGCATAATCTGAAAACAACAGAATAAAAACAATTGTTGGTAACACATACAATTTTTAACTTGTTAAATGTCAAAGCTGGAAGGGACTTCAGAGAACAGCTATATCAAGTGGGCTACTCAGGTTTATCAAGGGCAAAGTGACTTTCCTAAAGTCACAAGAGGCCGGGCATGGTGGCCCATGCCTGTAATCCCAGTACTTTGGGAGGCTGAAGAAGGCAGATCACTTGAGGTCAGGAGTTTGAGATTGGCCTGGCCAGCATGGTAAAACCCCCATCTCTATTAAAAATAGAAAAATTAGCTGGGTGTAGTGGTGGGCGCCTATAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGATTGCAGTGAGCTGGGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAAAAGAAAAAAAAATTTTTTTAAAAATAAAGTCACAAGAGAGTCAGTGACTGAGCCAGGCTTAGAACCCAAGTCACCTAGATTAGTAGTCCTCCAGTAAAGGCGATTGTGCCCCCGGGGGACATTTGGCCATATCTGGAAACATTTTGGGTTATCACAACTGGGGGTAGCGTGGGCTACTGGCTTCTAGGGGGTAGAGGCCAGATATGCTGTATATATATCCTGTCGTGCCTAAGACAGCCATCACAGGGAAGAATTGTCTGGTCTAAAATGTCAGTAGTGCCAAAGTTAAGAAACACTGACCTGGATCCTCCTAGTATGTTTCTTTTAGCCAAAAGTACAAAGTTCCTAACTTGTCTCACTGGCAAGACATTTTGTTTGTTCGTTTTGTTTGTTTGTTTTTGTTTTTCATATCTTGCTGTTTCCATCACTGGCAGTTTTATTATAGAGGAAGCAGTTTGGGAACGTCGCTACTGAGAGGAGGTTGCTAAACCACCTGTGGGGAAGTGGACTTGTCTTTTTGCCTTTTGTTTGTTTGTTTTTGTTTTTCTCTTTACAAATATTATTTATGTTCATTGTAAAATATTTGAAAAGTACAAATAAGTGGAAAAAGTCATCCACAATCCATTATTATATTAAGGCTATTACCAATTTTCTGTCTTTTTTTTTTTTTTTGTGACGGAGTTTCACTCTTGTTGCACAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACCACAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGCAGAGATGGGGTTTCTCCATGTTAGCCAGGCTGGTCTCAAATTCTTGATCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGCATCAGCCAATGTGACCGGCCCAGCTTTCTGTCTTTTTCCTGTCTTTTCTCTGTTTTTACAAGCCTGAGATCATACTATATTTACACATTCATAACTTTTTCCTTTTAATTTCATAATCCCAGGAGAAATAGGTGGGTTTTTTTTTTTTGGCTTTAGCAAAAATAATTGATTTGTTATTAATAACAATGCTTTGTTAATATAATATCATTTGTTTGTTTTTTTTGGGTTTTTTTATTGTTGGTAACTTTTTTTTTTTTCGAGGCAGGGTCTCACTCTGTTGCCCAGGCTGGGATGCAGTGGTATGATCACAGCTCACTGCAGCCTCGACCACCCAGGCTCAGGTGAACCTCCTACCTCAGCCTCCCAGGTAGCTGGGACTACAGGCGCTTGCCACCATGCCTAGCTAATTTTTTTGTATTTTTTGTAGAGACAGAGTTTTGCCATGTTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATTTTCCTGCCTCGGCCTCCTGAAGTGTTGGGATTACAGACATGAGCCACTGCACCTGGCCAACATCATTTTTAATGGCTGTATCATACTCCATTATATATAAAATACTCCATAATATCATAACTTCTCCATTTATGAACATTTAGTTCTTTTCAGGTTTTTACCATTATAATTAACAAAGCAGTGAACATCTTCATTCAGAAGTCATAGACTGTATTTCAAATTATTTTCTTAGGGTTCCTGCCAAGAAATAAAAAGGCTAGGTAAAATACTGTGAACCTTTTCAAGGTTTTGATACATACTACCAAATTGCTCTCCAGAAAGATTTTTCCGGTTTATCCTCTCTCCAACTGTGTTTAACAGTGTTTCTTTCATTACTGACCAGCACTGAATTTATCAGTTTTAAACATTGCTAATTTGATAGGCAAAAAAACTTGTACATAGTTTAAATATGCATTTTGGGCCGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGTACAGATCACCTGAGGTCAGGAGTTCCAGAGCAGCCTGGCCAACATGGTGAAACCCTGTCACTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAGTCCCAGCTGCTGAGGAGGGCGAGGCAGGAGGATCGCTTGAACCCTGGAGGCAGAGGTTGCAATGTGCCGAGATCATGCCACAGCCTGAGCAATGAGTGAGACTCTCTCTCAAAAAAGCATTTTTTGACCTGGACATTTTTCACATGTCAGCCAACTCTTGCTCAGTTCCCTCTATCAACAATATATTTGGGGTGTTGCCCACCTACTACATTTGTTGAGTATTGCCCGATAAAAAAATTAAAATTAAAAAAAAAAACTATTGTACAATAGTTGGTCAGAGTTCAGGAACTAGGACCAAATTTTCTTATATGTCAAGTATTTAAATTCCTTCAGCACATTTAGACAGTATGTTATCTTTTAATTTGATTTATTTGTTTGGGTATTTATTTCCTGTCTTCCCTCCTCTTCCATGCCCTCCCTCTGTGGAACATAAGCGCTTTGAAGGGAAGAGTTTGTTTATTGTTGAATACTCAGGGTACAGAACACTGTCCGAAATAAAGTAGACACGGCCGGGCATGGTGGCTCATGCCTATAATCCCAACACTTTGGGAGGACGAGGAGGGCGGATCAAAAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATACTGAAAGCCCGTCTCTACTAAAAATACAAAAGAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACACCGTCTCAAAAAAAAAAAAAAAAGAAGAAAGTGATAGAGTAGACACTTGGCAGACCATTTGGCTAATTGTGAAGCCAATTTGCTTGGAGGACTAGCAGTATAATATGGTGCTTAAGGGCACAGATGAGGGTCTCTGTTTTGCTATGCACTAACTATGACCTTGGACTAGTGATTTAACCTCTCTCTGCCTCTGTTTTCTGTCACATTGGATAGTAATAGTTTCTACCTTGTTAATTTGTCAAGGATTTAAATAAACTCAGTATCTGGCACATAATTAATGCTCAGTAATTGTTGTGGTAGTTGATGTAGTTAAGGTTTGGCAAAGGGAAATCAGTTCTGGAACCCTGGCCTTTTGATTTTCAACAATGGTATCCATTGAAATAAAATAAAGTGAGAATTTGGAAAGCTGTCAAAGAGGGTGATTTTATTTTATTTATTTATTTATTTATTTTTATTTTTGAGACAGTGTCTCACTGTGTTGCCAAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCATCCTCCACCTCTTGGGTTCAAATGATTCTCCAGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCCAGCTAATTTTTATATTAAAGAGGGTGATTTTCTATCATATCCCTTTTCTCTCCTAGAAAATATAATTTGACATCATGCCCAAGAAATATGAAATATGTACTTAGTTGCATTTGTTACCAAGGCAAGTCCCTCAAATGCTCAGGACTCCTTTGTGATTCTTTGTGCTGGTGTTTGAGTTGGCAGGAATACAGCCCTAGGGTCTTCTGGGCCTGGAGGTGACATGTATACCTTTCTAGCTCCCTCTAAGATCCAAAAGCTCTCCAACATCTGTAACTATAGAGACAGCTACATTTTGCTTTGGATATAGGCTGAGACTTTTTCAGTCTCCAGGTCCCCATTTGAGTCCCACACATATTACAGATGTTTCCTGTAGCATTTTATATATTGGATGTAGACCTTTTACAAAAGACAGAATTTCTTGGTGTGTTATGGTAGAGCAAGTGTGGGACTCTGATAGAACTGAGTTCAGGCCCGGCGCGGTAGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCGGGCAGATCAGGAGGTCAGGAGCTCGAGACCATCCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAAAAAAAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGATGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAAAGTGAGCCGAGATCGCGCCACTGCACTCTGGGCTGGGAGCCACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTGAGTTCAAACTCCTGCTCTGCTACGCACATATGCTATAACCTGCAGGAAAGGATTTAAATGTGCAGAGCTTCAGTTTCCTCATCTAAAAGTAGAGATACTTCCGCTCACTTCCCAAGCTTGAGTGAAGACACCAGGGATGGCAGTGCCCAGGGCAATGATGCTGCCCATTGAGGGTGCTCAATTAATGCATCTGCTTCTATAAAACCCAGGTTCATCCTTAAAAGAAATAAGCTTCTATACATCTATCTAGGTGGTGAAATTTTATTCTCCAGTCAGAGGAGTGGGAATTAGAAAGATCTTGGTGTTACTGAAAGAGTTTAAATTCCAACTCAGCCATTTCTTAGGCATGTCACTTTATCTGTCTCTCTCTCTCTCTCTTTCTCTCTCTCTTTCTTTGCCTTATTCTGTAACCCAGGCTGGAGTTGCAGTGGTGTGATCTTGACTCACTGCAACCTCAACCGCTGCAGGCTCAGTATATCCTCCCACCTAAGCTTCTCAGGTAGCTGGGACTATAGGCATACGCCACCACACCCGACTAATTTTTTTTTGTATTTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCACCTGCCCCAGCCTGCTAAAGTGTTGGGATTACAGGCATGAGCCACCGAGCCTGGCTAGCCATGTCTCTTTTAAAAAGTTACTTAATCCATCCCTACTTCAATTCTCTTACCTGTAAAATGCGGAAATTAATATTTGTTTAGCATTTACTGTTTAGTAGGGACTGTTATTACTGCTACTGAAATGTAATAGTATTGTCTTTTTTTTTTTTTCATTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATATGGTCTTACTCTTTTACCCAGGCTAGAGTGCAATGGCACGATCATAGTTCATTGCAGCCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCTTCCCAAAGTGCTAGGGTTACAGGCCTTACAGCCACTGTGCTCAGCCTAATTTTTTTTAATTTTTAATTTATTTTATTTTATTATTATTATTTTTTAAGATGAAGTCTCGCTTTGTCAACCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTCCGCCTCCTGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTATAGGTCCCCACCACGACACCTGGCTTTATTTATTTATTTATTTATTTTTAGTAGAGATGGGATTTCACCATGTTGGCCAGGCTGGTCTAGAACTCCTACCCTCAAGTGATCCACCCACCTTGGTCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCACCCCTGGCTGATTTTTTGTAGAGACAGGATATTGCTTTGTTTCCCAGTCTGGTCACAAACTCCTGGGCTCAAGCAATCCTCCTACCTCGATTTCCCAAACTGCTGAGGTTACAGGTGTTAGCTGCTGCACATGGCCTGCCTACTTTCTTTTATTGGCCACATTTTCTGGGAAATCTGGCACACCTGGACTCTGGCATCTAGTGGGAATGAATGTTAGCAGATGTTAGGGGGAGCGATAGTGAGCAAAGTAGAAGAGGGTTCAGAGAGGATATTTGAAGGCCTCCAAAACAAATTGACCTCTTTTTTTTCTTCTTTTTTTTTAATATGGAGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTTCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAACCTCCTGAGGAGCTGGGATTACAGGTCCCCACCACCATACCCGGCTAATTTTTCAGATTTTTAGTAGAGATGGGGTTTTACCCCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACACTGCACCCAGCCTGACTCCATTCTTGTGCTTACAGCTTTTAAATCTTGGGGATTTTGGACTGTCTTGGCAAATCCTAAGTATCATCTTCATTCTTCCTTGATGTTTGTGAGTATGAGATCCCTGCCCAAAACTATGCTGGCCCCCCTGGGGATTGGAGTTTGGAAACTGACTTCACTCAGCCCCAGAGTCAAGGTCAGAAGCCCCTCTACCTGGATATTTTAAGTGCCTGCATTCTCTCTGGCCCAG
Seq C2 exon
AAACCAGGACGTGGACCACGCCAGAAGTGACCAGCCCCCCACCATCCCCAAGAACATTCCACACATCATCGGCAGCCATTGGAAACCAGCTATATGTCTTTGGGGGCGGAGAGAGAGGTGCCCAGCCCGTGCAGGACACGAAGCTGCATGTGTTTGACGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136933:ENST00000373538:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.085 A=NA C2=0.503
Domain overlap (PFAM):
C1:
PF0764610=Kelch_2=PD(20.8=21.2),PF134151=Kelch_3=PU(46.9=44.2)
A:
NA
C2:
PF0764610=Kelch_2=PD(19.2=18.2),PF134181=Kelch_4=PU(70.4=69.1)
Main Inclusion Isoform:
NA

Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
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