Special

HsaINT0052317 @ hg38

Intron Retention

Gene
Description
DS cell adhesion molecule [Source:HGNC Symbol;Acc:HGNC:3039]
Coordinates
chr21:40187891-40189238:-
Coord C1 exon
chr21:40189042-40189238
Coord A exon
chr21:40187988-40189041
Coord C2 exon
chr21:40187891-40187987
Length
1054 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAAA
5' ss Score
8.59
3' ss Seq
TCTTTCTGCTTTACACATAGATT
3' ss Score
7.69
Exon sequences
Seq C1 exon
TTCCTGCGATGATAACATCCTATCCAAATACTACCCTGGCCACGCAGGGGCAGAAAAAGGAGATGAGCTGCACGGCGCATGGTGAGAAGCCCATTATAGTCCGCTGGGAGAAGGAGGACCGAATCATTAACCCTGAGATGGCCCGTTATCTTGTGTCCACCAAGGAGGTGGGAGAAGAGGTGATTTCTACTCTGCAG
Seq A exon
GTAAAAGCATGGCAAATACAACACAATGGAATGAACTTTATTGGAAGAATAAGTCTTTCCTTTCACAGAAGCGGGTGCAGATAAGTAGCAGATAATCTTTCGGAATTTATTTACGAAGCACTATTTCTCTCCCCTTTCACACAGCGAGATTAGTGAAGTAGCCTTCAAAAATAGTGCTTCAGCCTAAGTGTTATTAAGAATAGGGTTATTATGAACGCAGCAGGGAACCCAAATGTAGTAAAAAAAAAAAAAAAAAGTGAGAAATAAGGTTTTTAAATGACAGTTAATCCTTCAGGAATGATGGCCTATGCTGTGTGCATGTTTTAACTTCCTGCAAAAAGAAAAATGAGATGGGCTTTGGGACAAAAATATTATCATAAAAACTATCTTGCTTCTTTGGAAAAATCCACAATAAAAAAAAAATCTGTCGTTAAAAGAGGATCACAAAAGCTAGAGAAAAGGACTGTGAGCAGTGAACTGGTTTGTGCTGTTGTCATGCGGTTGGAGGATGATACTGTAGCACACACAGGGTGGGGAGGTGGGGAAGCCCTGTGTTTGAAATGCTTATATTGGCTCTCAGACAAGGGTCCATTCCTGGAATCCTCCTAGAAAAGGAATCTGATGCGAGTCTTGCGGGCCCCCAGCCCTGCCTGCAGTATTTAATCTGTCTCTTTAGGCATGGTTGCTTTGGATACCATGAAAAAAAAAATGTATATGTGGGATATATGTCAAGCTGACCACGACATCTTATATAAATTACACATCCAATTTAATGAGCTACACCTGACATGGATAATGTACGTGAATCCTATCCATCCGCCTACTTTCAATTACACTGAAATAATTTGTCCTCAGAGGGATACGTGCATGTGTGTGATTTAGTATGTGAGTCTGGAGGAATGGGGGTTTTGTGAGTGTGTGTGTGTGTGTGTGAGTGTACCTATGTGTGTGCTTGGCATGGCAGGAGAACTGAAAGAGTGGAGAGAGAGAGCTTTACGGCTCAAAGTCATTTTGCCTACTGAAAAAGATGAATTTCTTTCTGCTTTACACATAG
Seq C2 exon
ATTTTGCCAACTGTGAGAGAAGATTCTGGTTTCTTTTCCTGCCATGCTATTAATTCTTATGGGGAGGACCGTGGAATAATTCAGCTCACAGTGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000171587:ENST00000400454:12
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.061 A=NA C2=0.212
Domain overlap (PFAM):

C1:
PF0767911=I-set=PU(66.3=95.5)
A:
NA
C2:
PF0767911=I-set=PD(31.6=90.9)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATCCTATCCAAATACTACCCTGGC
R:
TTGCACTGTGAGCTGAATTATTCC
Band lengths:
278-1332
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