Special

HsaEX0053092 @ hg38

Exon Skipping

Gene
Description
RE1 silencing transcription factor [Source:HGNC Symbol;Acc:HGNC:9966]
Coordinates
chr4:56910630-56935844:+
Coord C1 exon
chr4:56910630-56911536
Coord A exon
chr4:56919787-56919870
Coord C2 exon
chr4:56929841-56935844
Length
84 bp
Sequences
Splice sites
3' ss Seq
ATATTATTGAAATTTTGCAGGAG
3' ss Score
7.05
5' ss Seq
CAGGTTGGT
5' ss Score
8.08
Exon sequences
Seq C1 exon
TTACAGTTCAAATAAAGATCTTCCCCCTGAAACACCTGGAGCGGAGGACAAAGGCAAGAGCTCGAAGACCAAACCCTTTCGCTGTAAGCCATGCCAATATGAAGCAGAATCTGAAGAACAGTTTGTGCATCACATCAGAGTTCACAGTGCTAAGAAATTTTTTGTGGAAGAGAGTGCAGAGAAGCAGGCAAAAGCCAGGGAATCTGGCTCTTCCACTGCAGAAGAGGGAGATTTCTCCAAGGGCCCCATTCGCTGTGACCGCTGCGGCTACAATACTAATCGATATGATCACTATACAGCACACCTGAAACACCACACCAGAGCTGGGGATAATGAGCGAGTCTACAAGTGTATCATTTGCACATACACAACAGTGAGCGAGTATCACTGGAGGAAACATTTAAGAAACCATTTTCCAAGGAAAGTATACACATGTGGAAAATGCAACTATTTTTCAGACAGAAAAAACAATTATGTTCAGCATGTTAGAACTCATACAG
Seq A exon
GAGAACGCCCATATAAATGTGAACTTTGTCCTTACTCAAGTTCTCAGAAGACTCATCTAACTAGACATATGCGTACTCATTCAG
Seq C2 exon
GTGAGAAGCCATTTAAATGTGATCAGTGCAGTTATGTGGCCTCTAATCAACATGAAGTAACCCGCCATGCAAGACAGGTTCACAATGGGCCTAAACCTCTTAATTGCCCACACTGTGATTACAAAACAGCAGATAGAAGCAACTTCAAAAAACATGTAGAGCTACATGTGAACCCACGGCAGTTCAATTGCCCTGTATGTGACTATGCAGCTTCCAAGAAGTGTAATCTACAGTATCACTTCAAATCTAAGCATCCTACTTGTCCTAATAAAACAATGGATGTCTCAAAAGTGAAACTAAAGAAAACCAAAAAACGAGAGGCTGACTTGCCTGATAATATTACCAATGAAAAAACAGAAATAGAACAAACAAAAATAAAAGGGGATGTGGCTGGAAAGAAAAATGAAAAGTCCGTCAAAGCAGAGAAAAGAGATGTCTCAAAAGAGAAAAAGCCTTCTAATAATGTGTCAGTGATCCAGGTGACTACCAGAACTCGAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000084093-'11-17,'11-12,15-17
Average complexity
S
Mappability confidence:
93%=100=88%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.341 A=0.141 C2=0.823
Domain overlap (PFAM):

C1:
PF134651=zf-H2C2_2=WD(100=10.0),PF134651=zf-H2C2_2=WD(100=8.7),PF134651=zf-H2C2_2=PU(38.5=3.3)
A:
PF134651=zf-H2C2_2=PD(57.7=51.7),PF134651=zf-H2C2_2=PU(38.5=34.5)
C2:
PF134651=zf-H2C2_2=PD(57.7=1.9),PF134651=zf-H2C2_2=WD(100=3.5),PF134651=zf-H2C2_2=WD(100=3.4)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAGCGAGTATCACTGGAGGA
R:
AGAGGCCACATAACTGCACTG
Band lengths:
170-254
Functional annotations
There are 0 annotated functions for this event


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