Special

HsaINT0052318 @ hg38

Intron Retention

Gene
Description
DS cell adhesion molecule [Source:HGNC Symbol;Acc:HGNC:3039]
Coordinates
chr21:40187131-40187987:-
Coord C1 exon
chr21:40187891-40187987
Coord A exon
chr21:40187260-40187890
Coord C2 exon
chr21:40187131-40187259
Length
631 bp
Sequences
Splice sites
5' ss Seq
AAGGTAGGA
5' ss Score
9.45
3' ss Seq
TCTTTCTGTTGATGGCACAGAGC
3' ss Score
5.05
Exon sequences
Seq C1 exon
ATTTTGCCAACTGTGAGAGAAGATTCTGGTTTCTTTTCCTGCCATGCTATTAATTCTTATGGGGAGGACCGTGGAATAATTCAGCTCACAGTGCAAG
Seq A exon
GTAGGAAGACGATAGCGTAAGAGAATAAACACAGTCATTTCAGGATGGGAGCTGTATGCTCAGCCTCAGGCATCTCTGTGTCCTCAACTTGCCATGTAACACTTCCTAATTCCCAGGAAATTTTGAATATGTATAATGTCAGTGCTAAAGCAGAATTTTGCAGTGCCTGGGATTATGTCAAAGTAAAGCCCCCAAACAGGGAACGAAGCCCTTAGAGGAACCAGTCAAGATGACAAGCCCATGACAGTCAAGCCACATGCACACAAGTACAGCGGTGGAATTTCTTTGCTCAATTTTAGGAATCCATGTACTAGATGACCAGAATGAAAGGGAAGTTTAACATTTGGGGCCAAAATATGTTTTGAGTTAGAGATCCAAACTAGAATCGTGACATTTTATATCCTCCAGGCTTGGTCCAGTTCTTAAGGGCTATGAAAATTGGAAGTCTTGGGAAAGTGGAATTTCTCTTCCCTAAAATGTGATTAGGAAAAAGAAAATGCTTCCAAATAAAAAGCTTCTGTTCTTGTCTAATGCAGACAAATCGTTTGTGAGTCACGCTCAGCATTTCCACTAGCGTTTTATGTCAGAGCTCTGTTTGAACTAACTCGTAGTCTTTCTGTTGATGGCACAG
Seq C2 exon
AGCCCCCAGACCCTCCCGAAATTGAGATCAAAGATGTCAAAGCACGCACAATTACGCTCAGGTGGACCATGGGGTTTGATGGAAACAGTCCCATCACAGGCTACGATATTGAATGCAAAAATAAATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000171587:ENST00000400454:13
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.212 A=NA C2=0.382
Domain overlap (PFAM):

C1:
PF0767911=I-set=PD(31.6=90.9)
A:
NA
C2:
PF0004116=fn3=PU(47.1=93.2)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TTTTGCCAACTGTGAGAGAAGA
R:
TTGCATTCAATATCGTAGCCTGTGA
Band lengths:
214-845
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