HsaINT0041854 @ hg38
Intron Retention
Gene
ENSG00000116791 | CRYZ
Description
crystallin zeta [Source:HGNC Symbol;Acc:HGNC:2419]
Coordinates
chr1:74723118-74724834:-
Coord C1 exon
chr1:74724711-74724834
Coord A exon
chr1:74723271-74724710
Coord C2 exon
chr1:74723118-74723270
Length
1440 bp
Sequences
Splice sites
5' ss Seq
CAGGTAGAA
5' ss Score
6.68
3' ss Seq
AAAATACATTGTCATTGCAGGTT
3' ss Score
6.16
Exon sequences
Seq C1 exon
TATCTAGATCACCATGGCGACTGGACAGAAGTTGATGAGAGCTGTTAGAGTTTTTGAATTTGGTGGGCCAGAAGTCCTGAAATTGCGATCAGATATTGCAGTACCGATTCCAAAAGACCATCAG
Seq A exon
GTAGAAATAAAATTACTTTATTGAGGCTATAATTATACTGAGTGTGAGTCTCTTGCACATTGTATTAAAAAGAAGCAGACTCACAATTATTTTTAAAAACATTGAATTAGGATGCAGTTTACACTATGTATACATATGGACATTGATAAAGTTAACATAAACCTGATAATTAGTGAAGTAGATGTATGAAAAAGAATAACCTCTGGTTATAAGAAAATTTTTGATGTAGGGAATGATCTATGTAGTGCAATAATTGGATTTTTCTGAATGGACACATAAGGAGTTTTGAATAAGTTATTCTATTACAAACATTCATGATTTTTATTTTTTGCATGCTGGGAAAACAATTTTCTTTTGCATTCATGCTTTTTCATGTGTGATTCATGAGAATTTAAGTATATAGTTTAATCATCTCCAGTGACTTTAACAATACACTTTTGATTTTAAATTATGTATTTTTATTACTGCACCCTCCATGGCTCCCAAGTCTAATTTTCTTAGCAAGCCTATGAGAGTCTTTACAGTTTGGATATAACCTATCTTTACAAATTTATTTCTCATCACTTCCTCTCCATGTAGAGATACAGTGCTGTAACAACATCAGCTTTTGTCCAATTTCCTTAATACTTCCTTTCATTTCTCTGTCTTTGCACATGCTATTTTTTTTTACCCAACCTATCCTTTCTCTCATTCCTAAAGAATTTCTACTTATCTTTTAAACCCTAACTAAATACCACTTCCTTTATAAAGCCTTCCCTTACTTTTATACCAGAGGTAATCATTCTGTGTTAATTAAGGTAAAATTAGCTCCCACAATTGCTGTAACCTAAAAATTGCAATAGTCCAGCCATGGACAATTATTTCTTATACACTAAATTTAAAAGTTCTCAAATGTGGGTGGGTAGCTGTTCTCCAACAGTGACTTAGGGACTCAGCTTCTTCTTTCATGTGGCTCTGCCACCCAACCCGTCTTCAGGGTCTCCATGGAAGAAGAAAAGCACGATGTGGCTTGGCTGGGAAGTTTTAATGGGTCAGGTCTGCAAGTGTCTACTGTCACTTTTGCTAACATTCCATTGGCTAGAACTCAGTTACTTGGCTACTCATAACCATGAGGGAGGCGAAGAAGTACCACTCTTTCTGTGTACCCAGGAAAAGGAGAAAACGGGTTTGATGAACACGCAGAGGTCTCTGCCACATATCCCCTTAGATATTTCTTTCACTATTTTCCCCAAAATGTTTTTAATGCAGTACATAAGCCATTCTGTCATACTTATTTATGTTAGCTTGTAAAACTTGGAATGTGAGCTTGTTGAAGGCAAGCACTTATTTGTTTTGCTTTTGTCTCCCATTTTGATAGCTCCCATAATCAGCACAGTCCTAGCATAAAGTTAAATGAATGCCTAAATTCTTTCTGTGAACTAAAATACATTGTCATTGCAG
Seq C2 exon
GTTCTAATCAAGGTCCATGCATGTGGTGTCAACCCCGTGGAGACATACATTCGCTCTGGTACTTATAGTAGAAAACCACTCTTACCCTATACTCCTGGCTCAGATGTGGCTGGGGTGATAGAAGCTGTTGGAGATAATGCATCTGCTTTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000116791:ENST00000340866:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF082407=ADH_N=PU(2.1=5.4)
A:
NA
C2:
PF082407=ADH_N=FE(51.5=100)
Main Inclusion Isoform:
NA

Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TAGATCACCATGGCGACTGGA
R:
TGAAAGCAGATGCATTATCTCCA
Band lengths:
271-1711
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development