Special

HsaEX0067006 @ hg19

Exon Skipping

Gene
ENSG00000124496 | TRERF1
Description
transcriptional regulating factor 1 [Source:HGNC Symbol;Acc:18273]
Coordinates
chr6:42225873-42231306:-
Coord C1 exon
chr6:42231058-42231306
Coord A exon
chr6:42227077-42227461
Coord C2 exon
chr6:42225873-42225939
Length
385 bp
Sequences
Splice sites
3' ss Seq
GATCGTTGTTCCGGTTTTAGGAA
3' ss Score
9.39
5' ss Seq
CCAGTGAGT
5' ss Score
8.28
Exon sequences
Seq C1 exon
GAGGAAGGAGAGAAGGTCCTGCCGCCTCAGCCCCAGCCACCACTGCCGCCTCCGCCTCCGCCTCCGCCGCCACCACAGCTCCCTCCCGAGGCAGAAAGCCTCACGCCTATGGTCATGCCCGTGTCTGTCCCTGTCAAGCTTCTCCCGCCCAAGCCCAGCTCTCAGGGGTTCACCAACAGCACCGTTGCCGCCCCCTCCGCCAGAGACAAGCCAGCCAGCTCGATGTCGGACGACGAGATGCCTGTGCTC
Seq A exon
GAAATCCCCAGGAAGCATCAGCCGAGTGTGCCCAAAGCCGAGGAGCCCCTCAAGACCGTGCAGGAGAAGAAAAAGTTCCGGCACCGGCCGGAACCTCTCTTCATCCCGCCGCCGCCCTCCTACAACCCGAACCCCGCTGCCTCCTACTCGGGCGCCACCCTGTACCAGAGCCAGCTGCGCTCCCCGCGCGTCCTCGGGGACCACCTGCTCCTGGACCCCACCCACGAGCTGCCCCCTTACACGCCCCCACCCATGCTGAGCCCGGTGCGCCAGGGCTCGGGGCTCTTCAGCAATGTCCTCATCTCCGGCCACGGCCCTGGCGCCCACCCGCAGCTGCCCCTGACGCCCCTGACGCCCACACCACGGGTGCTGCTGTGTCGCTCCA
Seq C2 exon
ACAGCATCGATGGCAGCAACGTGACGGTCACCCCAGGGCCTGGAGAGCAGACTGTAGATGTTGAACC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124496_MULTIEX4-2/2=1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=0.809 C2=0.739
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGAAGGAGAGAAGGTCCTGC
R:
TCAACATCTACAGTCTGCTCTCCA
Band lengths:
312-697
Functional annotations
There are 1 annotated functions for this event
PMID: 26538579
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: filter binding. ELM ID: ELMI003308; ELM sequence: RHRPEPLFI; Overlap: FULL


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development