HsaEX0055741 @ hg38
Exon Skipping
Gene
ENSG00000124782 | RREB1
Description
ras responsive element binding protein 1 [Source:HGNC Symbol;Acc:HGNC:10449]
Coordinates
chr6:7228997-7247221:+
Coord C1 exon
chr6:7228997-7231907
Coord A exon
chr6:7240438-7240602
Coord C2 exon
chr6:7246424-7247221
Length
165 bp
Sequences
Splice sites
3' ss Seq
TATTTTTTTTCCTGCTTCAGGTC
3' ss Score
10.58
5' ss Seq
CAGGTAGTG
5' ss Score
6.13
Exon sequences
Seq C1 exon
CTTAGGAGGTTCTGTCCCCAAAGCCGCCACCACCGCCACCCCCGCTGCCACCACCAGCCCAAAAGAGTCTAGTGAGCCTCCCGCTCCAGCCAGCAGCCCAGAGGCTGCCTCTCCCACCGAGCAGGGCCCAGCGGGCACGTCGAAGAAGAGGGGCCGGAAAAGGGGGATGAGGAGCCGACCCCGCGCCAACAGCGGCGGGGTGGACCTGGACTCCAGCGGGGAGTTTGCCAGCATCGAGAAGATGCTGGCCACCACAGACACCAACAAGTTCAGTCCGTTTCTGCAGACAGCGGAGGACAACACTCAGGATGAGGTGGCCGGAGCCCCTGCCGACCACCATGGGCCCAGTGATGAAGAGCAGGGCAGTCCCCCAGAAGACAAGCTGCTGAGGGCCAAGCGGAACTCGTACACCAACTGCCTGCAGAAGATCACCTGTCCCCACTGTCCCCGGGTTTTCCCTTGGGCCAGCTCCCTACAGAGGCACATGCTCACACACACTG
Seq A exon
GTCAGAAACCCTTCCCTTGTCAAAAATGCGATGCCTTCTTTTCTACCAAATCTAACTGTGAACGCCACCAGTTGCGCAAACACGGAGTTACCACCTGTTCCCTGAGAAGAAACGGGCTTATCCCCCAGTCAAAAGAGAGTGATGTTGGATCCCATGATAGCACAG
Seq C2 exon
ACAGTCAGTCGGATGCGGAGACTGCAGCCGCCGCGGGCGAAGTGCTAGACCTCACCTCACGGGACAGAGAGCAGCCGTCGGAGGGCGCCACTGAGCTCCGCCAGGTCGCAGGGGATGCGCCTGTGGAGCAGGCCACGGCGGAAACGGCCTCGCCGGTGCACCGGGAAGAGCACGGGCGTGGGGAGAGCCATGAGCCGGAGGAGGAGCATGGCACTGAGGAGAGCACTGGGGACGCCGACGGCGCGGAAGAGGACGCGTCGAGCAACCAGAGCCTGGACCTGGACTTCGCCACCAAGCTCATGGACTTCAAGCTGGCGGAGGGCGACGGCGAGGCAGGCGCCGGGGGCGCGGCCTCGCAGGAGCAGAAGCTCGCCTGCGACACCTGTGGGAAGAGCTTCAAGTTCCTGGGCACCCTGAGCCGCCACCGGAAGGCGCACGGCCGCCAGGAGCCCAAGGACGAGAAGGGAGATGGCGCCAGCACTGCAGAGGAGGGGCCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124782-'54-37,'54-35,55-37
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.427 A=0.454 C2=0.918
Domain overlap (PFAM):
C1:
PF134651=zf-H2C2_2=WD(100=2.6),PF134651=zf-H2C2_2=WD(100=2.7),PF134651=zf-H2C2_2=WD(100=3.6),PF134651=zf-H2C2_2=PU(38.5=1.0)
A:
PF134651=zf-H2C2_2=PD(57.7=26.8)
C2:
PF0009621=zf-C2H2=WD(100=8.6),PF134651=zf-H2C2_2=PU(40.0=3.7)
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTACAGAGGCACATGCTCAC
R:
AGTGCTCTCCTCAGTGCCAT
Band lengths:
256-421
Functional annotations
There are 1 annotated functions for this event
PMID: 21703425
In vitro proliferation studies using the UMUC-3 bladder cancer cell line after selective isoform-specific knockdown of expression indicate that RREB1alpha (all included) is not necessary for proliferation, but that RREB1beta (skipping exon 8, HsaEX0055741) may be required.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development