HsaEX0017388 @ hg38
Exon Skipping
Gene
ENSG00000116791 | CRYZ
Description
crystallin zeta [Source:HGNC Symbol;Acc:HGNC:2419]
Coordinates
chr1:74714579-74723270:-
Coord C1 exon
chr1:74723118-74723270
Coord A exon
chr1:74719209-74719372
Coord C2 exon
chr1:74714579-74714630
Length
164 bp
Sequences
Splice sites
3' ss Seq
TCATTTATCTCTTCCCCTAGAAA
3' ss Score
10.35
5' ss Seq
CAGGTAATA
5' ss Score
8.55
Exon sequences
Seq C1 exon
GTTCTAATCAAGGTCCATGCATGTGGTGTCAACCCCGTGGAGACATACATTCGCTCTGGTACTTATAGTAGAAAACCACTCTTACCCTATACTCCTGGCTCAGATGTGGCTGGGGTGATAGAAGCTGTTGGAGATAATGCATCTGCTTTCAAG
Seq A exon
AAAGGTGACAGAGTTTTCACTAGCAGCACGATCTCTGGGGGTTATGCAGAGTATGCTCTTGCAGCAGACCACACTGTTTACAAACTACCTGAAAAACTGGACTTTAAACAAGGAGCTGCCATCGGCATTCCATATTTTACTGCTTATCGAGCTCTGATCCACAG
Seq C2 exon
TGCCTGTGTGAAAGCTGGAGAGAGTGTTCTGGTTCATGGGGCAAGTGGAGGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000116791_MULTIEX3-1/2=C1-2
Average complexity
S*
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:
PF082407=ADH_N=PD(41.5=70.9),PF122423=Eno-Rase_NADH_b=PU(17.0=16.4)
C2:
PF122423=Eno-Rase_NADH_b=FE(32.1=100),PF136021=ADH_zinc_N_2=PU(8.8=72.2)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTAATCAAGGTCCATGCATGTGG
R:
CCTCCACTTGCCCCATGAAC
Band lengths:
202-366
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