Special

HsaEX0071514 @ hg38

Exon Skipping

Gene
Description
WAS/WASL interacting protein family member 1 [Source:HGNC Symbol;Acc:HGNC:12736]
Coordinates
chr2:174575204-174585611:-
Coord C1 exon
chr2:174585523-174585611
Coord A exon
chr2:174581310-174581439
Coord C2 exon
chr2:174575204-174575380
Length
130 bp
Sequences
Splice sites
3' ss Seq
TTTGTATGGCTCCCTTTCAGGCC
3' ss Score
8.75
5' ss Seq
ACAGTAAGT
5' ss Score
9.49
Exon sequences
Seq C1 exon
ATTTATCAGCAAGACTGTTGAACGCATAACTGCCCAAGATGCCTGTCCCTCCCCCTCCAGCACCCCCGCCGCCCCCGACGTTTGCACTG
Seq A exon
GCCAATACAGAGAAGCCTACCTTGAATAAGACAGAGCAGGCTGGGAGAAATGCTCTCCTTTCTGATATCAGCAAAGGGAAGAAACTAAAGAAGACGGTCACCAATGACAGAAGTGCACCAATACTGGACA
Seq C2 exon
AACCTAAAGGAGCTGGTGCTGGAGGCGGTGGTGGTGGCTTTGGTGGAGGCGGCGGATTTGGCGGAGGAGGTGGTGGCGGAGGCGGTGGAAGTTTTGGAGGGGGCGGACCTCCAGGTCTGGGAGGATTGTTCCAGGCTGGAATGCCGAAGCTGAGATCCACGGCCAACAGGGATAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115935-'39-45,'39-40,42-45
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

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

C1:
PF0121314=CAP_N=PU(28.1=94.1),PF062736=eIF-4B=PU(0.1=0.0)
A:
PF0121314=CAP_N=PD(68.4=88.6),PF062736=eIF-4B=FE(31.2=100),PF0220515=WH2=WD(100=61.4)
C2:
PF062736=eIF-4B=FE(40.6=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCATAACTGCCCAAGATGCCT
R:
CATTATCCCTGTTGGCCGTGG
Band lengths:
243-373
Functional annotations
There are 1 annotated functions for this event
PMID: 16275905
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: isothermal titration calorimetry, sequence based prediction, structure based prediction, x-ray crystallography. ELM ID: ELMI001659; ELM sequence: RNALLSDISKGKKLKKT; Overlap: FULL


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development