HsaEX0067006 @ hg38
Exon Skipping
Gene
ENSG00000124496 | TRERF1
Description
transcriptional regulating factor 1 [Source:HGNC Symbol;Acc:HGNC:18273]
Coordinates
chr6:42258135-42264854:-
Coord C1 exon
chr6:42264704-42264854
Coord A exon
chr6:42259339-42259723
Coord C2 exon
chr6:42258135-42258201
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
TGGCCAACCCAAAGGAGCGTTTGGGGAGCAGTTTGATGCCAAGAACAAGCTGACATGCTCCATCTGCCTGAAGGAGTTCAAGAACCTGCCTGCCCTGAATGGCCACATGCGGTCCCACGGGGGAATGAGGGCCTCCCCCAACCTCAAACAG
Seq A exon
GAAATCCCCAGGAAGCATCAGCCGAGTGTGCCCAAAGCCGAGGAGCCCCTCAAGACCGTGCAGGAGAAGAAAAAGTTCCGGCACCGGCCGGAACCTCTCTTCATCCCGCCGCCGCCCTCCTACAACCCGAACCCCGCTGCCTCCTACTCGGGCGCCACCCTGTACCAGAGCCAGCTGCGCTCCCCGCGCGTCCTCGGGGACCACCTGCTCCTGGACCCCACCCACGAGCTGCCCCCTTACACGCCCCCACCCATGCTGAGCCCGGTGCGCCAGGGCTCGGGGCTCTTCAGCAATGTCCTCATCTCCGGCCACGGCCCTGGCGCCCACCCGCAGCTGCCCCTGACGCCCCTGACGCCCACACCACGGGTGCTGCTGTGTCGCTCCA
Seq C2 exon
ACAGCATCGATGGCAGCAACGTGACGGTCACCCCAGGGCCTGGAGAGCAGACTGTAGATGTTGAACC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124496_MULTIEX4-2/2=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.662 A=0.814 C2=0.739
Domain overlap (PFAM):
C1:
PF139121=zf-C2H2_6=WD(100=47.1)
A:
NO
C2:
NO
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:
CAACCCAAAGGAGCGTTTGGG
R:
GGTTCAACATCTACAGTCTGCTCT
Band lengths:
214-599
Functional annotations
There are 1 annotated functions for this event
PMID: 26538579
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