Special

HsaINT0028683 @ hg19

Intron Retention

Gene
Description
cysteine conjugate-beta lyase 2 [Source:HGNC Symbol;Acc:33238]
Coordinates
chr1:89427064-89427828:-
Coord C1 exon
chr1:89427742-89427828
Coord A exon
chr1:89427190-89427741
Coord C2 exon
chr1:89427064-89427189
Length
552 bp
Sequences
Splice sites
5' ss Seq
TCTGTAAGT
5' ss Score
7.96
3' ss Seq
TCTTCATTCTTCATGCTTAGAAA
3' ss Score
6.97
Exon sequences
Seq C1 exon
GTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCT
Seq A exon
GTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTCAAGACTTAAGAAGTCTTGAAAATACCAATTACTTTGTCATGATAAAGTTTCTACTTTGATTGCATTTGGAGATTTCCTGTATATCTCTATTTGTCTAGTTGTCTTTTTAAAATATTTTTAACATAAGTAATACACTAAGGTGAGTCACAAAATCTTCAGCTAGCCTTACAATATCAGACATGTTAACCATAGTTATAGCTAGTTCCTGTGAAGTAATATTAGCAGCAGTTAATGTTGACAGGGCTTATTTTTCCATTTAACAGGTGTGAGCATAAGACTTAGGTTTTCTTAGGCTCTTAAGCAGAACTACAGCCCAGTTATTTCTGTTTATCTTCTTTGTTAGTCTTTTTCTAGTTTTTTTTCTGTTCCTACTGCAGGAAAGCATTTGTTGGTAATTTATTCAGTTTCCTTTGCCATGACTTTCTTTGATGTTTTTTTCCTTATTAGGTTATTCGTTTGTAAGACAGTAAACATGACTTAATTGAATTAAATTATATCTTCATTCTTCATGCTTAG
Seq C2 exon
AAACCTGTTTATGGAAAAAGATGGTCTAGTTCTGACTGGACATTAGATCCTCAAGAACTGGAAAGTAAATTTAATTCCAAAACCAAAGCTATTATACTAAATACTCCACATAACCCACTTGGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000137944-CCBL2:NM_001008661:6
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0015516=Aminotran_1_2=FE(14.1=100)
A:
NA
C2:
PF0015516=Aminotran_1_2=FE(10.7=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTAATAGTGCCTTTCTATGACTGCT
R:
TGCCAAGTGGGTTATGTGGAG
Band lengths:
206-758
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