HsaEX0017140 @ hg38
Exon Skipping
Gene
ENSG00000134376 | CRB1
Description
crumbs 1, cell polarity complex component [Source:HGNC Symbol;Acc:HGNC:2343]
Coordinates
chr1:197344281-197357013:+
Coord C1 exon
chr1:197344281-197344476
Coord A exon
chr1:197347340-197347479
Coord C2 exon
chr1:197356831-197357013
Length
140 bp
Sequences
Splice sites
3' ss Seq
AAATTTCATTTACTTTCCAGATA
3' ss Score
7.1
5' ss Seq
CTGGTGAGT
5' ss Score
10.1
Exon sequences
Seq C1 exon
GTGTAAACTGTGAATTGGAAATTGACGAATGTTGGTCCCAGCCTTGTTTAAATGGTGCAACTTGTCAGGATGCTCTGGGGGCCTATTTCTGCGACTGTGCCCCTGGATTCCTGGGGGATCACTGTGAACTCAACACTGATGAGTGTGCCAGTCAACCTTGTCTCCATGGAGGGCTGTGTGTGGATGGAGAAAACAG
Seq A exon
ATATAGCTGTAACTGCACGGGTAGTGGATTCACAGGGACACACTGTGAGACCTTGATGCCTCTTTGTTGGTCAAAACCTTGTCACAATAATGCTACATGTGAGGACAGTGTTGACAATTACACTTGTCACTGCTGGCCTG
Seq C2 exon
GATACACAGGTGCCCAGTGTGAGATCGACCTCAATGAATGCAATAGTAACCCCTGCCAGTCCAATGGGGAATGTGTGGAGCTGTCCTCAGAGAAACAATATGGACGCATCACTGGACTGCCTTCTTCTTTCAGCTACCATGAAGCCTCAGGTTATGTCTGTATCTGTCAGCCTGGATTCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134376_MULTIEX1-6/13=5-7
Average complexity
C1
Mappability confidence:
98%=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=PD(6.5=3.0),PF0000822=EGF=WD(100=47.0),PF0000822=EGF=PU(53.1=25.8)
A:
PF0000822=EGF=PD(43.8=29.2),PF0000822=EGF=PU(80.6=52.1)
C2:
PF0000822=EGF=PD(12.1=6.5),PF0000822=EGF=PU(94.1=77.4)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGATTCCTGGGGGATCACT
R:
ACCTGAGGCTTCATGGTAGCT
Band lengths:
246-386
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