HsaINT0136369 @ hg38
Intron Retention
Gene
ENSG00000136933 | RABEPK
Description
Rab9 effector protein with kelch motifs [Source:HGNC Symbol;Acc:HGNC:16896]
Coordinates
chr9:125207564-125213522:+
Coord C1 exon
chr9:125207564-125207721
Coord A exon
chr9:125207722-125213369
Coord C2 exon
chr9:125213370-125213522
Length
5648 bp
Sequences
Splice sites
5' ss Seq
TGGGTAAGA
5' ss Score
8.91
3' ss Seq
CTGGGTGAAATGTTTTCCAGGAA
3' ss Score
6.69
Exon sequences
Seq C1 exon
GTACACCTTGACTGTCCCTGGAGACAGCCCCTGTGCTCGAGTTGGCCACAGCTGTTCATATTTACCCCCAGTTGGTAATGCCAAGAGAGGGAAGGTCTTCATTGTTGGGGGAGCAAATCCAAACAGAAGCTTCTCAGACGTGCACACCATGGATCTGG
Seq A exon
GTAAGATCAGCAGCTGCAGAGTACATGCCCTATGGCCAGAGAACAGGGCTGTGTGCTGCTAGCCATGAGCAGGGCATTCCTAAAAACACCAGCAGGGTTTTCCTATAAGAAAACATGGCCAGGACCAGGTGTGGTGGCTCACGCCTCTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTTAGAGTTCGAGACCAGCCTGACCAATATGATGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTAGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATTACTTTGAACTGGGGAGATGGAAGTTAAAGTAAGCCAGGATCATGCCACTGTACTCCGGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAGAAAAAAGAAAAAGTCAGCATCACTGACAGATCCCTCAGGTTTCTTAGTAGGCCCCTGGCACACATTCATCTGACCAGTACCTCCTTGTTTAGCGGGAGAGAACCCTTATGGAGCCCTGGTTGTCCAGCCATTTATTCATCAAATATTTCTGTAGGATACATTGATGACTACCACCACTCATTCTATTCACATATCCAATATATCACTAAGCCCTACATATCTCTTTTCTTTGTTTTTTGTTTTTGTTTTTTTGAGATGGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAATGGCGCGATCTTCACTCATTGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCCAAGTACTTGGGATTACAGGCATGTGCCACCATGCCCAGCTAATTTTTTTTTTTTTTAGACGGAGTCCCACTCTGTTGCCAAGGCTGGAGTGCAGTGGCACGACCTCAGCTGACCGCAACCTGTGCCTTCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGAAGCTGGGATTACAGGCGCCCACCACTACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACTGAGTTTCACCATGTTGGCCAGGATGGTCTCGAACTCCAGACCTCATGATTCACCCTTCTTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCACGCCCAGCCTACATATCTCTTATCTTTATCCATGTCTGTCCATTTCCACTACTACTACTGTAGTCCAAGCCACTGTTATCTCTCAACTAGACTTACAAGAGCCTCCTCACCAGCCTCCCTGCTTCCAAGTTTACCCCCTATACAGTGCATTTTCTCTACCTAGCCAGCGAATATCATCTAAAATACAAATCTAACCATGTCACTCCCTATTTCAGACTTTTCTCAACCTCCCTTTTTTTTTTTTTTTTTTGAGACCAAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCTGCAAACTCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAATAGCTGGGATTACAGGTGTGCGCCACCATGCCCTGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACGATGTTGATCAGGCTGGTCTTCAAATCCTGACCTGGTGATCCTCCCGCCTCATCCTCCCAAAGTGCTGGGATTATGCATGTGAGTCACCACACCAGCCTTTTTTTTTTGAGGCAGCGTGTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGATTACAGGCGCGTGCCACCAGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTGATCTGCTTGCATCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCCCAACCTCATTTCTTGGCTCTCTCCAACCCACATTTGCTGCACTGGATATCCTTCAGTTCCTTGAACACAGCTTGAGCTCTCTGGCCTCCATGCCTTTGCACACACAGATCCCTCTGCTAGGAATGTTTTTCCCTTTTCTTATCATCTGGCTTCTCTATATCTTTCAGATTTCAGATTAAATGTCACTTCTACCAGGAACCTTTCCTGTTACCTCTGGACTCGTTCAGGCACTACATGACTCTGTATGTCCGTAGTCTCATGTGCTCTTCCATCCTGTCTGCCTTCACAGCCCTATCACATGTGATTGTTTCTTGTCCGTCTGCCCCACAAGAACATAAGCTCCTCAGAAACAGATAGCATATTTTCCTCATCATTGTATCCCAGACACTACCACAGGGCTTAGTACAGAGTGGGTGCTCTATAAGTATTTAAATGAATGAATGAATGAACCTGCTAATAAGAAACAATTGGATCTGGGCGCAGTGGCTCACGCCTCTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCGCTAGGTCAAGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTATAGTCCCAGCTACTCGGGGAGGCTGAGGCAGGAGAATGGCGTGAATCCGGGAGGCGGAGCTTGCAGTGAGTGGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGGAAATGATTATTAGCTGGGCGTGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAAATCACAAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGATGGCTTGTGCCCGTAGTCCCAGCTGAGGCAGGAGAATTGCTTGCATCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTATGCCACTGCACTCCAGTCTGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAATAAAAGAAACGATTATTCTTTGCTCTACACAAGGGCAGAAGTTGAACAATGGTGACCCACTTACGTATTTTGTTAGGTCCATGTAACATTTCCCTATTGTTTTAATCTTAAGTTTTGTTTTTTTTTTTGAAATGGAGTCTCAAACTGTCACCCAGGCTGGAGTGCAGAGGCACGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTAAAGTGATTCTCCTGGGCCGGGCATGGTGGCTCACCATGCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAAACCCATCTCTACTAAAAATAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGATAGGGCGAGACGCCATCTCAAAAAAAAAAGAAAGTGATTCTCCTGCCTCATACTCCCAAGTAGCTGGAACTACAGGCACGTGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGAGGGTCTTGAACTCCTAACCTCAAGTGATCCACCCACCTCGGCCTCCCCAAGTGCTGGGATTACATGCGTGAGCCACCACGCCCAGCATAATCTTAAATTGTTTACCAACCAATTATGCAGAAATCTACATATAAAAATTTAAATGGTTTGGCTTCTCTTGATAATGTTGGAAAATCTAATGTCAGTAGGCCTCCCTGTCTACATGGCAACAATTATTTGGAACTGAGCTGCCACCTATCAAGAGGGCTCTTATTCTCCAGTTTGCCACAGTTTTTGTTACTCCCACCTAGGCATTTGAATTTCTACTCCCTGCACTAAAAAAATCAAAGGTAGGCTGGACGAGGTGTAATCCCCCAGCACCTTGGGAGGCCAAGGCGGGTGGGTCACTTGAGGTCAGGAGTTTGAGGCCAGCCCGGCCAATATGGTGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATAGTAGCTCACACTTTTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCAGTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAATTCAAAGGTAAATTAAATCACTTCTAGCCCTCAATTACATTAAATTAGTTCAACTTACATCTTTATTGCAACCTATTAATAGCTTTGTGACCCTGGCTACACCATCTCAACCATCTGGACCTCAGTGCTCTATAAAGTAGGGATAATAACTTGCTTCAGATCTAACAAGATAATGCCTGTAAAGGTCTTGTGTAATTGGTTAACCAAGTAAAATAATTGTTAATAATAAAGGTTAGGGTTTTTTGTTTGTTTGTTTGTTTTTTGAGACGGAGTCTTACTGTGTCACCCAGGCTGGAGCGCAATCTCAGCTCACTGCAAGCTCCACCTCCCGGGTTAATGCCATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGACTACAGGCGCCTGCCATCGCGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCGCCTGACCAAGGTTAGGTATTACTATTCTGTGAACTTGTCTTAGCCAGCCATCATTTATTTGCAAGTAACAGAATCTCACTTAAACCAGAGGAAAAAGGGGGAATTTATTTAGTCAGATACAGGCGTGTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGAGTGTTGCTGTGTTCCCAGACTGGAGTACAGTGGCACAATCTTGGCTTGCTGCAACCTCCGCTTGGTTTACCAAGTAAAATAACCCTGGGTTCAAGCGAGTCCCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGTGCCACTATGCTTGGCTAATTTTTTGTATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGATGGATTCGATCTCCTGACCTCGTGATCCGCCCACCTGGGCCTCCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCACCTGGCCAATACAGGCGTGTTTCAAAGAATTCAAGGACAGGAAGTAGAGCCCAGGATCATGAGAAAGTGGAAGCACTTGATCTGGTTGGCTCATTCTGGTTTCATTGGCTACCTTCAACCCAATCAGCTAAAGCTACAAAGTCAAAGCATAGTACAAACATGTCATCTGGGATCTATCCTTGTGGTTGACAAAGTGGGGACAGTTTCCATAGAACGGGGTCTATGGACTAGGCAGACAGCCCCCTAAGTATCTATTATAGAATTTTCTGGAGGTTGACAACATGCCCTTTAAGTGATTCAGTGGTTTTCATTTATGTTTATGGCCCTCTTCTCATGACCCTCCTCAAGTGTGCCAACCAATATAATAATTGGCAGCCCCAATCTAGGAACTGGGTGAAATGTTTTCCAG
Seq C2 exon
GAAAACACCAGTGGGACTTAGATACCTGCAAGGGCCTCTTGCCCCGGTATGAACATGCTAGCTTCATTCCCTCCTGCACACCTGACCGTATCTGGGTATTTGGAGGTGCCAACCAATCAGGAAATCGAAATTGTCTACAAGTCCTGAATCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136933:ENST00000373538:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.141 A=NA C2=0.085
Domain overlap (PFAM):
C1:
PF0764610=Kelch_2=PU(78.8=75.9)
A:
NA
C2:
PF0764610=Kelch_2=PD(20.8=21.2),PF134151=Kelch_3=PU(46.9=44.2)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
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
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development