Special

HsaINT0136370 @ hg19

Intron Retention

Gene
ENSG00000136933 | RABEPK
Description
Rab9 effector protein with kelch motifs [Source:HGNC Symbol;Acc:16896]
Coordinates
chr9:127982818-127990338:+
Coord C1 exon
chr9:127982818-127982979
Coord A exon
chr9:127982980-127990188
Coord C2 exon
chr9:127990189-127990338
Length
7209 bp
Sequences
Splice sites
5' ss Seq
CAAGTATGG
5' ss Score
4.99
3' ss Seq
TATTGAATTTACTTTTCTAGACA
3' ss Score
7.2
Exon sequences
Seq C1 exon
AAACCAGGACGTGGACCACGCCAGAAGTGACCAGCCCCCCACCATCCCCAAGAACATTCCACACATCATCGGCAGCCATTGGAAACCAGCTATATGTCTTTGGGGGCGGAGAGAGAGGTGCCCAGCCCGTGCAGGACACGAAGCTGCATGTGTTTGACGCAA
Seq A exon
GTATGGACTGGTGGGCACCTTGGGGCTGGTCAGGGCCATCCCAGTTTACACATTACCTAATATAGGAAGCAGAAGTTAGAAAAGGAAAGCCTGACTAAGTGTCTCACTTCTAGACTTCTTTGTTATATCTCTTAGCTGATATCTTTTTCCCACAGCAAAATTGGCATTTAAAAAGGGATAGTGAGGCCTGGCATGGTGGCTCACACCTGTAATCCCAGAGCTTTGGAAGGCTGAGGCAGGTGGACCGCTTAAGGTCAGGAGTTCGAGAACAGCCTGGCCAACATACCTTTTCTCTACTAAAAACACAAAAATTATCCGGGCATGATGGTATGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTTAAACCCAGGAGGAGGAAGTTTCAGTGAGCCAAGATTGGGCCACTGCACTCAGCCTGGGCAACAGAGCAATACTCCATCTCAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAACTAAAAAGGTAGGCCGGGAACGGTGGCTCACGTCTGTGATCCCAGCACTTTGTGACGCCCAGGTGGGAGGATCACCTGAGGTCAGGAGTTTGAAACCAGCCTGGCCATCATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTGGCCGGGTGCAGCGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTGGCAATGAACCAAGATCGTGCCATTGCACTCCAGCCTTGGCAACAGAGCGAGACTCTCTCAAAAACTAAATAAAAAAATAAAAAGGTATAATGATCAAGTTAAAAAGTTTAAACCATACAATTTATAAAGTAAAAAAGTAAAAGAAAGAATAAGAAAGACAAAAAACAAACAGAAGTAAAAGATTCCCCTTCAGCCTTTCCTTTCCCCGCCTCAGGTACATGCCTGGGTGATTTTTTTTCTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTTGCCCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCGGCCTCCCAACTAGCTGGGATTACCAGCATGCACCAACATGTCCATCTAATTTTTTGCGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAAGCCTGACCTCAGGTAATCTGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCACCCGGCCAGATTTTTGTATTTTTATTGTAGAGATGCAGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTCATGAGCTCAAGCAATCTGCCTGCCTCTGCCTGCCCACCTCTGCCACCACACTCAGCCAAAATTTTTACCTTGCAAAGTAAAATTGGGAAAATTAAGAGATAGCACATTCCCAAGCCAGAGTATTTGGGAAAAAAAAAAAAAAAGACACATCACAGTGTGACTTTTCTCTTTCCAGAAAGAATGGGCTTTGTGATTCTTTTAAAGCAGTTTTAAAAGTTTAAATAATATTGGTTTTGAATATATAAAACTATAAGGAACAAGAAAAAAAACATATGTATGTGTATATGTGTGTGTGTGTGTACATGTGTATGTACTATCACCCCAAAATTAAATTACTGTTAACATCTCAGTGTATTATCAATCTTTTTTTTTTAAGAACAGAGATAATTCAAACCAGATGTGGTGGCTCACGCCTGTAATGCCAGGACTTTGGGAGGCTGAGGAGGGCAGATTACTTGAGGTCAGGAGTTCAAGAGCAGCCTGACCAACATAGTGAAACCTCGTTGCTACTAAAAATACAAAAAATTAACTGGGCGTGGTGACGCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCACTTGAACCCCGGAGGCGGAGGTTGCAATGAGCCGAGATCTTGCCACTGCACTCCAGCCTGGGTGAGGGAGCAAGACTCTGTATCAAAAAAAAAAAAAAAAAAAAAAAAGGACAGAGATAATTCTATATGTTACATTTGCATCCTATATTTTTCACTTAAGCATTGTTCCATGCAATCAGAAAGTCTTCACCAGCATTTTGAAATGATGATTATTATATAAATATTAGAGTCAGGGTCTCACTGCATTGCCAAGGCTGGTCTCAAACTCCTAGCCTCAAGTGATCCTTCAGCTTTGGTCCCTCAAAGTGCTGGGATTACAGGCATTGAGCCACACCACCCGGCCTTCACCATCATTTTTAATAAGTGCTTAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCATGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATCAGCCAGGAATGGTGGCGGGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGCAGAATTGCTTGAACCCAGGAGGCAGAGGTGGGTGGATTACCTGAGGTCAGGTAATCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGACGTGGTGGCAGGTGCCTGCCTGCCACCCTCTGCTGCAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTTGAACCTGGGAGGTGGAGGTAGCAGTGAGCTAAGATCACGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGGCTCTGTCTCAAAAAAATAAATAAATTTTTTAAAAAGTGTGTAATATTTCCTCATGGCTATACTAATAATTAAACCTGCTCATGGACACTTAGGCTATTTCCAATTTTTGTCTATTATAAACAATACTGTAATGAACAAGCCAGGTATGCTGACTCATGCCTATAATCCCATCGGCTCAGGAGGCTGGAGGACCGCTTGGGCCCAGGAGTTTGAGGATGTAGTGAGCCATAATTGCACCACTGCACTCCAGCCTTTGCAGTAGAGCGAGACCCTGACTCTAAAAAAAAAAAAAAAAAAAAAATGCTATAAGGAACATATTTATGCAGAAACCATTTCAGGTAATTTTAAATTAAATTCCTTGGGACACTGGGGACTCCTTGAACAACCAGCAGGCATACCATAAACAGTAATTCAAAGACAAATTGTTTGGCAGACCTTTGTTTCAAAGAGTTTTTGCAGGCTGGGCGCAGTGGCTCATGCCCGTAATCCTTTGGGAGGCCACTTTGGGACACCAAAGCAGGTGGATCCCTTGAGGTCAGGAGTTCAAAACTAGCCTTGACAACATGATGAAACCCTGTTTCAACTGAAAATACAAAAAATTATCCAGGCATGGCGGCAGGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTCTCCTGGAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAACACTCTATCTCAAAAAACAAAAACAAAACAAAAAAAAAAAACAACAGAGTTTTTGCAGTACTCCTTTAAGACTTTTCTGGTATATAGAAATGATTAATTTTCCAGAATTCTATATATGTACAGCTTTGAAGATAAGAAGGGTTGCCTGTAGTAAAACGTAATAATCATCATATTCATAACTCTCATGTATTGGGTACTTTTTTTTCCTTCATGCTTTATGTATATTATCTCATTTAATTCATACCTCAGCTCTTAAAAGTAGGTATTGTCTTTTTTTTTTTTTTTTGAGATGAAGTCACGCTCTGTTGCCCAGGCTGGAGTGCAATGACACAATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTTGGACTGCAGGCACATGCCACCACGCCTGGCTAATTTTTAAAATATTCTTAGTAGAGATGGGGTTTTACTGTGTTAGTCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGTCATAAGCCACTGCGCCCGGCCAGTATTGTCTGTATCCTTATTTTACAGCCATAGAAACTGCAGCTTAGAGAAGTAATTGGTGAAAGGCCACATAGTTATATAGTGAGATAACCTGGTTTCAGCTCCAAATCCCATATTCTAACCATTATCCTATACTGCCACATCAGGAGTCCCTGCTAACTTTTATTTAAGACTAGTCTGTTTTTTTCCCCAACCCCTTCAGCAAATCAATTAAGTCTAGCAGGATGCAGTGGTGTGTGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGACCACTTGAGCCTAGGAGTTCCAGTCCAGCCTGGACAACATAGCAAGACCCCATCTCTAAAAATAATAATAAGACTGGGTGTGGTGGCTGACACCTGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTCAATCCCTATCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGTGTGCACCTATAATCCCAGCTATTTGAAAGGCTGAGGCAGGAGAATTGCTTGAACCTGCGAGGCAGAGGTTGCAGTGAGAGCCAAGATCGTGCCATTGCACTCCAGCCTAGGCAACAAGAGCACAACTCCATCTCAAAAAAAAAAAAATGGCTGGATGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCCAGGGGGGTGGATCTCTTATGGTCAGGAGTTTGAGACTAGCCTAGCCAACATGGCAAAACCTCAGCTTTACTACAAATATGAAAAAATTTAGGATGGGCGCAGTGGCTCATGCCTATAATCCCAACACTTTGGGAGGCTGAGACAGGTGGATCATTTTAGGTCAAGAGTTTGAGACCAGGTTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAAGGGCCAGGAGTGGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTATCTACTAAAAAACATACAAAAAATTAGCCGGGCTTGGTGGTAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTTGACTCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCATTACACTCCAGCCTGGGTGACAGAGGAAGACTCTGTTTCAAAAAAAAAAAAGAAAAAGAAAAAGAAAAAAAAAAAATTTAGCTGGGCGTGGTGGTGCACACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGGCAGAGGTTGCAGCAAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTAAGAGAGTAAGACTTTGTCTCAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTTTGGGTGCCTGTAATCCCACCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGGGCGAAGATCGCACTTGTGCATCCTAGCCTGAGCAACAGAGCAAAACTCTGTCCCCCGACCCCCTGCAAAAAAAAAAAAAAAGTTGAGTGCCACTGACATAGACAAGTAACTTGTCCAAATATTAGTCATTAAGGGATGAAATTGTTATTGAAACATTACTTATAAAATAAATAAATAACAAGGCTGGGCACAGTGGCTCACACCTATATCCTAGCACTTTGGGATGCCGAGGTGGGCAGATTGCCTGAGCTCAGGAGTTTGAGACCAGTCTGGGCAACATGGTGAAACCCCGTCTCTATGAAAATACAAAATATTAGATGGGGCCGGGCACGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGAATCACGAGGTCAAGAGATCAAGACCAGTCTGGCCAACATGGTGATACCGCGTCTCAATTAAAAATAGAAAAATTAGCTGGGGGTGGTGGCATGTGGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGGAGGCGGAGGTTACAGTAAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTGCAAAAAATAATAATAATAAATAGAAGCCAGGCGTGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTAAAGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGCATGTGGTGTTGCATGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTAAGCTGAGATCATGCCATTGCACTCCAGCCTGGGCGACAAGACCGAAACTTTGTCTCAAATAATAATAATAATAATGATAATAATAATACATTAAATAAATGAATAACAAGAAGATGACTCTGAAGGGCTGTCACAGAAACAGACTCATTCATTTTGACTTTGTGGCAGTTTTAGTTTGAAGCTAAAGAGGAGATCGTTTTTATTTCATAGCGAGAAATGGCTTCCGGGTGCTGAGTAGAAGGGGCAGGCATGTTTGGTAGTGGGCTCTCCAGCCCTAGAAGCATGCACGCAGAGCCTCTGTAGGACTTTTTTTTTTCTTTTTTTTAAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAATGGCGCAATCTCGGCTCACTTCAACCTCCACCTCTCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACTAGGCACCTGCCACCACACCTGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACAGTGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCAGGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAACTGTGAGCCACCGCAGCAGCCTATAGGATGTAAAAGGAGGGATGCCTGGATTGGCTGGGGGAGTTGGAGTGAATGACCCCAGGGTTGCTTCCTGCATGGGACAGCTCCGCTTGCTAGGAGGTGCTACAGAGGCTTGGGCCTGTTTCTCGTGTTCTTTTTTAATAGTTTTGCCATTTGATGTTATTGAATTTACTTTTCTAG
Seq C2 exon
ACACTCTGACCTGGTCACAGCCAGAGACACTTGGAAATCCTCCATCTCCCCGGCATGGTCATGTGATGGTGGCAGCAGGGACAAAGCTCTTCATCCACGGAGGCTTGGCGGGGGACAGATTCTATGATGACCTCCACTGCATTGATATAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136933-RABEPK:NM_001174153:5
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.535 A=NA C2=0.304
Domain overlap (PFAM):

C1:
PF0764610=Kelch_2=PD(19.2=18.2),PF134181=Kelch_4=PU(70.4=69.1)
A:
NA
C2:
PF134181=Kelch_4=PD(27.8=29.4),PF134181=Kelch_4=PU(68.0=66.7)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
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
  • Pre-implantation embryo development