Special

HsaEX0053091 @ hg38

Exon Skipping

Gene
Description
RE1 silencing transcription factor [Source:HGNC Symbol;Acc:HGNC:9966]
Coordinates
chr4:56907876-56919870:+
Coord C1 exon
chr4:56907876-56908213
Coord A exon
chr4:56910630-56911536
Coord C2 exon
chr4:56919787-56919870
Length
907 bp
Sequences
Splice sites
3' ss Seq
TTGTTTTGTTTTTAATTCAGAAT
3' ss Score
7.72
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
GGCGGCGGCGGCGGCGCGGACTGGGTGCGCGGCGCAGCGTCCTGTGTTGGAATGTGCGGCTGCCGCGAGCTCGCGGCGCAGCAGCGGAGCGAGCGCCGCCGAGGCCCGGGGCCCCAGACCCTGGCGGCGGCTGCCGCAGCCGAGACGGCAGGGCGAGGCCCGGAGGCCTGAGCACCCTCTGCAGCCCCACTCCTGGGCCTTCTTGGTCCACGACGGCCCCAGCACCCAACTTTACCACCCTCCCCCACCTCTCCCCCGAAACTCCAGCAACAAAGAAAAGTAGTCGGAGAAGGAGCGGCGACTCAGGGTCGCCCGCCCCTCCTCACCGAGGAAGGCCG
Seq A exon
AATACAGTTATGGCCACCCAGGTAATGGGGCAGTCTTCTGGAGGAGGAGGGCTGTTTACCAGCAGTGGCAACATTGGAATGGCCCTGCCTAACGACATGTATGACTTGCATGACCTTTCCAAAGCTGAACTGGCCGCACCTCAGCTTATTATGCTGGCAAATGTGGCCTTAACTGGGGAAGTAAATGGCAGCTGCTGTGATTACCTGGTCGGTGAAGAAAGACAGATGGCAGAACTGATGCCGGTTGGGGATAACAACTTTTCAGATAGTGAAGAAGGAGAAGGACTTGAAGAGTCTGCTGATATAAAAGGTGAACCTCATGGACTGGAAAACATGGAACTGAGAAGTTTGGAACTCAGCGTCGTAGAACCTCAGCCTGTATTTGAGGCATCAGGTGCTCCAGATATTTACAGTTCAAATAAAGATCTTCCCCCTGAAACACCTGGAGCGGAGGACAAAGGCAAGAGCTCGAAGACCAAACCCTTTCGCTGTAAGCCATGCCAATATGAAGCAGAATCTGAAGAACAGTTTGTGCATCACATCAGAGTTCACAGTGCTAAGAAATTTTTTGTGGAAGAGAGTGCAGAGAAGCAGGCAAAAGCCAGGGAATCTGGCTCTTCCACTGCAGAAGAGGGAGATTTCTCCAAGGGCCCCATTCGCTGTGACCGCTGCGGCTACAATACTAATCGATATGATCACTATACAGCACACCTGAAACACCACACCAGAGCTGGGGATAATGAGCGAGTCTACAAGTGTATCATTTGCACATACACAACAGTGAGCGAGTATCACTGGAGGAAACATTTAAGAAACCATTTTCCAAGGAAAGTATACACATGTGGAAAATGCAACTATTTTTCAGACAGAAAAAACAATTATGTTCAGCATGTTAGAACTCATACAG
Seq C2 exon
GAGAACGCCCATATAAATGTGAACTTTGTCCTTACTCAAGTTCTCAGAAGACTCATCTAACTAGACATATGCGTACTCATTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000084093-'0-12,'0-3,11-12
Average complexity
C1
Mappability confidence:
87%=100=75%
Protein Impact

ORF disruption upon sequence exclusion (Ref, Alt. ATG (<=10 exons))

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

C1:
NA
A:
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)
C2:
PF134651=zf-H2C2_2=PD(57.7=51.7),PF134651=zf-H2C2_2=PU(38.5=34.5)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCGTCCTGTGTTGGAATGTG
R:
ACTTGAGTAAGGACAAAGTTCACA
Band lengths:
344-1251
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