Special

HsaEX6016817 @ hg19

Exon Skipping

Gene
Description
activating transcription factor 2 [Source:HGNC Symbol;Acc:784]
Coordinates
chr2:175978722-175982846:-
Coord C1 exon
chr2:175982718-175982846
Coord A exon
chr2:175979418-175979596
Coord C2 exon
chr2:175978722-175978836
Length
179 bp
Sequences
Splice sites
3' ss Seq
TTTATCTCATTGTTAAATAGGAA
3' ss Score
8.45
5' ss Seq
TGTGTAAGT
5' ss Score
7.65
Exon sequences
Seq C1 exon
ATGCCTCTAGATTTATCCCCTCTTGCAACACCTATCATAAGAAGCAAAATTGAGGAGCCTTCTGTTGTAGAAACAACTCACCAGGATAGTCCTTTACCTCACCCAGAGTCTACTACCAGTGATGAGAAG
Seq A exon
GAAGTACCATTGGCACAAACTGCACAGCCCACATCAGCTATTGTTCGTCCAGCATCATTACAGGTTCCCAATGTGCTGCTTACAAGTTCTGACTCAAGTGTAATTATTCAGCAGGCAGTACCTTCACCAACCTCAAGTACTGTAATCACCCAGGCACCATCCTCTAACAGGCCAATTGT
Seq C2 exon
CCCTGTACCAGGCCCATTTCCTCTTCTGTTACATCTTCCTAATGGACAAACCATGCCTGTTGCTATTCCTGCATCAATTACAAGTTCTAATGTGCATGTTCCAGCTGCAGTCCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115966-'12-18,'12-17,14-18=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.749 A=0.626 C2=0.776
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCTCTAGATTTATCCCCTCTTGC
R:
TGGGACTGCAGCTGGAACAT
Band lengths:
242-421
Functional annotations
There are 1 annotated functions for this event
PMID: 26538579
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: protein array. ELM ID: ELMI003089; ELM sequence: RPASLQV; Overlap: FULL


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains