HsaEX6016804 @ hg38
Exon Skipping
Gene
ENSG00000115935 | WIPF1
Description
WAS/WASL interacting protein family member 1 [Source:HGNC Symbol;Acc:HGNC:12736]
Coordinates
chr2:174559572-174568073:-
Coord C1 exon
chr2:174567861-174568073
Coord A exon
chr2:174567070-174567183
Coord C2 exon
chr2:174559572-174562602
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-'55-56,'55-54,57-56=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=0.990 C2=1.000
Domain overlap (PFAM):
C1:
NO
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:
TAAGCAGAAACGGCAGCACAT
R:
AAGATCACCTCGGGATGGGAG
Band lengths:
249-363
Functional annotations
There are 4 annotated functions for this event
PMID: 12372256
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
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
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
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