HsaEX0017389 @ hg38
Exon Skipping
Gene
ENSG00000116791 | CRYZ
Description
crystallin zeta [Source:HGNC Symbol;Acc:HGNC:2419]
Coordinates
chr1:74710098-74723270:-
Coord C1 exon
chr1:74723118-74723270
Coord A exon
chr1:74714579-74714630
Coord C2 exon
chr1:74710098-74710247
Length
52 bp
Sequences
Splice sites
3' ss Seq
ACTTATGCTTTCCTTTGCAGTGC
3' ss Score
10.73
5' ss Seq
GGAGTAAGT
5' ss Score
8.57
Exon sequences
Seq C1 exon
GTTCTAATCAAGGTCCATGCATGTGGTGTCAACCCCGTGGAGACATACATTCGCTCTGGTACTTATAGTAGAAAACCACTCTTACCCTATACTCCTGGCTCAGATGTGGCTGGGGTGATAGAAGCTGTTGGAGATAATGCATCTGCTTTCAAG
Seq A exon
TGCCTGTGTGAAAGCTGGAGAGAGTGTTCTGGTTCATGGGGCAAGTGGAGGA
Seq C2 exon
GTTGGATTAGCAGCATGCCAAATTGCTAGAGCTTATGGCTTAAAGATTTTGGGCACTGCTGGTACTGAGGAAGGACAAAAGATTGTTTTGCAAAATGGAGCCCATGAAGTGTTCAATCACAGAGAAGTGAATTACATTGATAAAATTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000116791_MULTIEX3-2/2=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF082407=ADH_N=FE(51.5=100)
A:
PF122423=Eno-Rase_NADH_b=FE(32.1=100),PF136021=ADH_zinc_N_2=PU(8.8=72.2)
C2:
PF122423=Eno-Rase_NADH_b=PD(47.2=50.0),PF136021=ADH_zinc_N_2=FE(33.3=100)
Main Skipping Isoform:
ENST00000417775fB13090
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TACTCCTGGCTCAGATGTGGC
R:
CTTCCTCAGTACCAGCAGTGC
Band lengths:
137-189
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development