Special

HsaEX0017139 @ hg19

Exon Skipping

Gene
Description
crumbs homolog 1 (Drosophila) [Source:HGNC Symbol;Acc:2343]
Coordinates
chr1:197297552-197326143:+
Coord C1 exon
chr1:197297552-197298133
Coord A exon
chr1:197313411-197313606
Coord C2 exon
chr1:197325961-197326143
Length
196 bp
Sequences
Splice sites
3' ss Seq
TGTGCTGACTTTTTTAAAAGGTG
3' ss Score
8.17
5' ss Seq
CAGGTACAT
5' ss Score
7.79
Exon sequences
Seq C1 exon
CAATGATTGTTCTTGTTCAGACACAGCCAATAATTTGGACAAAGACTGTGACAACATGAAAGACCCTTGCTTCTCCAATCCCTGTCAAGGAAGTGCCACTTGTGTGAACACCCCAGGAGAAAGGAGCTTTCTGTGCAAATGTCCTCCTGGGTACAGTGGGACAATCTGTGAAACTACCATTGGTTCCTGTGGCAAGAACTCCTGCCAACATGGAGGTATTTGCCATCAGGACCCTATTTATCCTGTCTGCATCTGCCCTGCTGGATATGCTGGAAGATTCTGTGAGATAGATCACGATGAGTGTGCTTCCAGCCCTTGCCAAAATGGGGCCGTGTGCCAGGATGGAATTGATGGTTACTCCTGCTTCTGTGTCCCAGGATATCAAGGCAGACACTGCGACTTGGAAGTGGATGAATGTGCTTCAGATCCCTGCAAGAACGAGGCTACATGCCTCAATGAAATAGGAAGATATACTTGTATCTGTCCCCACAATTATTCTG
Seq A exon
GTGTAAACTGTGAATTGGAAATTGACGAATGTTGGTCCCAGCCTTGTTTAAATGGTGCAACTTGTCAGGATGCTCTGGGGGCCTATTTCTGCGACTGTGCCCCTGGATTCCTGGGGGATCACTGTGAACTCAACACTGATGAGTGTGCCAGTCAACCTTGTCTCCATGGAGGGCTGTGTGTGGATGGAGAAAACAG
Seq C2 exon
GATACACAGGTGCCCAGTGTGAGATCGACCTCAATGAATGCAATAGTAACCCCTGCCAGTCCAATGGGGAATGTGTGGAGCTGTCCTCAGAGAAACAATATGGACGCATCACTGGACTGCCTTCTTCTTTCAGCTACCATGAAGCCTCAGGTTATGTCTGTATCTGTCAGCCTGGATTCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134376_MULTIEX1-5/7=4-7
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show structural model
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0000822=EGF=WD(100=16.4),PF0000822=EGF=WD(100=15.9),PF0000822=EGF=WD(100=15.9),PF0000822=EGF=PU(84.8=14.4)
A:
PF0000822=EGF=PD(6.5=3.0),PF0000822=EGF=WD(100=47.0),PF0000822=EGF=PU(53.1=25.8)
C2:
PF0000822=EGF=PD(12.1=6.5),PF0000822=EGF=PU(94.1=77.4)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGTGTGCCAGGATGGAATTGA
R:
CATTCCCCATTGGACTGGCAG
Band lengths:
243-439
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development