Special

HsaEX0006517 @ hg19

Exon Skipping

Gene
Description
activating transcription factor 7 [Source:HGNC Symbol;Acc:792]
Coordinates
chr12:53926944-53931336:-
Coord C1 exon
chr12:53931199-53931336
Coord A exon
chr12:53928286-53928443
Coord C2 exon
chr12:53926944-53927043
Length
158 bp
Sequences
Splice sites
3' ss Seq
TGTTGGTTTCTTTTCTCCAGGAG
3' ss Score
10.32
5' ss Seq
GGGGTAAGT
5' ss Score
9.65
Exon sequences
Seq C1 exon
GCTGCTGCTGGGCCCCTTGACATGTCTCTGCCTTCCACACCAGACATCAAAATCAAAGAAGAAGAGCCAGTGGAGGTAGACTCATCCCCACCTGATAGCCCTGCCTCTAGTCCCTGTTCCCCACCACTGAAGGAGAAG
Seq A exon
GAGGTTACCCCAAAGCCTGTTCTGATCTCTACCCCCACACCCACCATTGTACGTCCTGGCTCCCTGCCTCTCCACTTGGGCTATGATCCACTTCATCCAACCCTTCCCTCCCCAACCTCTGTCATCACACAGGCTCCACCATCCAACAGGCAAATGGG
Seq C2 exon
GTCTCCCACTGGCTCCCTCCCTCTTGTCATGCATCTTGCTAATGGACAGACCATGCCTGTGTTGCCAGGGCCTCCAGTACAGATGCCGTCTGTTATATCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000170653_MULTIEX1-1/2=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.978 A=0.934 C2=1.000
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
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCCCTTGACATGTCTCTGC
R:
AGACGGCATCTGTACTGGAGG
Band lengths:
218-376
Functional annotations
There are 2 annotated functions for this event
PMID: 25301550
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: two hybrid. ELM ID: ELMI003062; ELM sequence: RPGSLPL; Overlap: FULL
PMID: 26538579
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: fluorescence polarization spectroscopy, protein array. ELM ID: ELMI003062; ELM sequence: RPGSLPL; Overlap: FULL


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development