HsaINT0136372 @ hg38
Intron Retention
Gene
ENSG00000136933 | RABEPK
Description
Rab9 effector protein with kelch motifs [Source:HGNC Symbol;Acc:HGNC:16896]
Coordinates
chr9:125232596-125234055:+
Coord C1 exon
chr9:125232596-125232745
Coord A exon
chr9:125232746-125233687
Coord C2 exon
chr9:125233688-125234055
Length
942 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
3' ss Seq
CTTTTCCCTCCCCAACATAGAAG
3' ss Score
6.9
Exon sequences
Seq C1 exon
GTGACATGAAATGGCAGAAGCTAAATCCCACTGGGGCTGCTCCAGCAGGCTGTGCTGCCCACTCAGCTGTGGCCATGGGAAAACATGTGTACATCTTTGGTGGAATGACTCCTGCAGGAGCACTGGACACAATGTACCAGTATCACACAG
Seq A exon
GTGAGCAGGTGTCCATGGGGGATCTTTAAACAAATCTAAACATTCTTTGAAACGTGATGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGACCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATTGCTTGAACCCAGGAGGCAGAGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAAGTGATGCAGTGCTTCCAATTTGGTTCCTCTATATCTAAATCCAAAAGAATGAAAACTCTGTAGGGGATGACATCAGGAAAGCAGCAATGCTGCCATAAGGTTTTTTTCCTTTTACTCCTGTTTGTTAGGACTCGGCTGCTACAGTAAATCACTGAGCATTTCTAGAAATTTCATTACTTTTTAAATTTTATTCAGATTTTGGCTTTCACTATCTGGAAATTGTTTTTTTTTTTTTTTTTTTTTTTGTCTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGTAGTGCGGTGACGTGATCTTGGCTCACTGCAAGTTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCACCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTATCTGGAAATTTCTTAACATGAAGCCTTTTCCCTCCCCAACATAG
Seq C2 exon
AAGAGCAGCATTGGACCTTGCTTAAATTTGATACTCTTCTACCCCCTGGACGATTGGACCATTCCATGTGTATCATTCCATGGCCAGTGACGTGTGCTTCTGAGAAAGAAGATTCCAACTCTCTCACTCTGAACCATGAAGCTGAGAAAGAGGATTCAGCTGACAAAGTAATGAGCCACAGTGGTGACTCACATGAGGAAAGCCAGACTGCTACACTGCTCTGTTTGGTGTTTGGTGGGATGAATACAGAAGGGGAAATCTATGACGATTGTATTGTGACTGTAGTGGACTAATAAAACCCACATTTTTATTACCTGTCAGTTACTTTCAGAATAGTTAAGTAAAACATTAGCTGTTTTATACCTCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136933:ENST00000373538:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.039 A=NA C2=0.268
Domain overlap (PFAM):
C1:
PF134181=Kelch_4=PD(30.0=29.4),PF0134420=Kelch_1=PU(79.1=66.7)
A:
NA
C2:
PF0134420=Kelch_1=PD(18.6=8.2)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAGAAGCTAAATCCCACTGGG
R:
GCAGTGTAGCAGTCTGGCTTT
Band lengths:
356-1298
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