Special

HsaEX6016804 @ hg19

Exon Skipping

Gene
Description
WAS/WASL interacting protein family, member 1 [Source:HGNC Symbol;Acc:12736]
Coordinates
chr2:175424300-175432801:-
Coord C1 exon
chr2:175432589-175432801
Coord A exon
chr2:175431798-175431911
Coord C2 exon
chr2:175424300-175427330
Length
114 bp
Sequences
Splice sites
3' ss Seq
CTGCTTGTTTCTCTTCCCAGATG
3' ss Score
11.07
5' ss Seq
GGAGTGAGT
5' ss Score
6.05
Exon sequences
Seq C1 exon
GCCCCCTCCCACCACCTCCTCCAGTAAGCAGAAACGGCAGCACATCTCGGGCCCTGCCTGCTACCCCTCAGTTGCCATCCAGGAGTGGAGTAGACAGTCCCAGGAGTGGACCCAGGCCTCCCCTTCCTCCTGATAGGCCCAGTGCTGGGGCACCTCCCCCACCTCCACCATCAACATCTATTAGAAATGGCTTCCAAGACTCTCCATGTGAAG
Seq A exon
ATGAGTGGGAAAGCAGATTCTACTTCCATCCGATTTCCGATTTGCCACCTCCAGAGCCATATGTACAAACGACCAAAAGTTATCCCAGCAAACTGGCAAGAAACGAAAGCCGGA
Seq C2 exon
GTGGATCCAACCGAAGAGAAAGGGGTGCTCCACCACTCCCTCCCATCCCGAGGTGATCTTTGCCTGCTCTTCTCTACCCAAGCTCAAGAGCTGCTTCTGTTGCTATCTAAGAACTGCATACCCTCCTCCCTGCTTCTTCCCTTGTGCCTCATGTATGGGCAGGAGGAAAGGTGGGAGGGGGAGTGGGAATATGCGTGTGTGGGTGGGAATCGGTAAGAAATGCACCTAGCTTTTCATATTGTGTTTATTCTCCAGGCTATTGCTTGCTTCAGCTGCAGCCTGCCTGTGCTGGCTGCTGGGGTCGATAGGCTTTTGTCGTAATAGGCAGAGATGACTTGCATCCCAGCTTTCCACCAACCAAATTCAAACATTCACTGCTTATTTGTTACAGACTGTAATTATTAAAGTCCCTGAGAGCTGTTTTCTCCCGTTCCTTTTTCGCATGCTTGGCCTCCTCTCTGTTTCTATGAACCACAGACCACCTAAGCAAGCTGCTGAGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115935-'29-34,'29-33,31-34=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=0.968 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:
TAAGCAGAAACGGCAGCACAT
R:
AAGATCACCTCGGGATGGGAG
Band lengths:
249-363
Functional annotations
There are 4 annotated functions for this event
PMID: 12372256
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning, mutation analysis, pull down. ELM ID: ELMI001705; ELM sequence: FYFHPISDLPPPE; Overlap: FULL
PMID: 12372256
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning, mutation analysis, pull down. ELM ID: ELMI002695; ELM sequence: ESRFYFHPISD; Overlap: FULL
PMID: 12437929
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning, green fluorescent protein tag, mutation analysis, nuclear magnetic resonance, pull down, structure based prediction, western blot. ELM ID: ELMI001705; ELM sequence: FYFHPISDLPPPE; Overlap: FULL
PMID: 17229736
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning, green fluorescent protein tag, mutation analysis, nuclear magnetic resonance, pull down, structure based prediction, western blot. ELM ID: ELMI001705; ELM sequence: FYFHPISDLPPPE; Overlap: FULL


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains