Special

HsaINT0052440 @ hg19

Intron Retention

Gene
Description
desmoglein 3 [Source:HGNC Symbol;Acc:3050]
Coordinates
chr18:29045281-29046717:+
Coord C1 exon
chr18:29045281-29045420
Coord A exon
chr18:29045421-29046492
Coord C2 exon
chr18:29046493-29046717
Length
1072 bp
Sequences
Splice sites
5' ss Seq
ATGGTAAGA
5' ss Score
9.48
3' ss Seq
CTAAAACATTGTTCTTACAGAAT
3' ss Score
6.65
Exon sequences
Seq C1 exon
ATATGTCATGGGACGTAACGATGGTGGATACCTAATGATTGATTCAAAAACTGCTGAAATCAAATTTGTCAAAAATATGAACCGAGATTCTACTTTCATAGTTAACAAAACAATCACAGCTGAGGTTCTGGCCATAGATG
Seq A exon
GTAAGAAAAATATTTGAATCATTTCAGAGGAATGTTATCGTAATTGATGTTTCTTTATGCATAGATGATTATGATTATTCAACATATTATCTTTACCACTGGAGAGAGAGAATTATCTTAGGAGTGTTGGGCCTCAAGTTTGAGGCAGCTGAATCCGGGAGAGAAAACTAAGAGTTTCAACTTCTCAGTGGAGATTGAACCAGTGAATTCTGTGTTAGGTCCCTGTGGTTTGCTGTGGTTGAAGCAGAAATTTTTTGACTGACAGAAATCCCTGGGTTTGAGGGAATGGATAAGGATTCATAGACAAAGCGCATCAGGGAATCTCAACTTGAACGTCAGGTGCTTTTGTGAGGTACCTATAGAGACCTCATGTACTTTTATCATTGAACAATGCAATTTCCTCTTCTGGAATGTTTTAAAATAATATTCATTGAGTGTATGTGTTTCCCCAAGTATAAAATTAATTTATGTTGAAGGTAATAAAAAAGATAACACCCCCCAAAAGAAATAAGTATCAAAAAGATTGCCATTTGGGAAAACAAGAAAAGAAGTAGTAAGGGTAACAACAGAAATGACACATAATGCCCCCACAGAGAGATTTTTATTTCATTATTTTTTATTTTCAGCATTTAAAATTTTTCTTTAATAAACTTTAACATTTTGAGTAATAAAAATATACAATTTTTTATTCCAAATAAAAAATGTGTGCTTTAGAAGCAGAAACTTTTCACACATTGATTACAAGTGAAATCAACACATTTAAGAAAGTTACTATTTTTGTGCTGATTTTATTTGAAATTGGTGAATTCATCATCTTACTGGTCTTGGGTTCGAGCATATTAAATTAATTCTCAATTAATTATAGTTAGAGACATCAGCCTATTTGGTAAATTTCAATTTGCTTTTTACAAGATGCAGAAATAGGATGACTATTTTTACTTCTGAGGATAATATAGTATTTCATGAGAAGACACACTGAGTTGGCTACAGAAAAGAGAAATGTAAAAGATTCTCCTTTTTTGTACAACTTTGTTCTATACATTTCTTTAACTCTAAAACATTGTTCTTACAG
Seq C2 exon
AATACACGGGTAAAACTTCTACAGGCACGGTATATGTTAGAGTACCCGATTTCAATGACAATTGTCCAACAGCTGTCCTCGAAAAAGATGCAGTTTGCAGTTCTTCACCTTCCGTGGTTGTCTCCGCTAGAACACTGAATAATAGATACACTGGCCCCTATACATTTGCACTGGAAGATCAACCTGTAAAGTTGCCTGCCGTATGGAGTATCACAACCCTCAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134757-DSG3:NM_001944:10
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:
PF0002812=Cadherin=FE(51.1=100)
A:
NA
C2:
PF0002812=Cadherin=PD(16.3=19.7)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
([1])
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATGGGACGTAACGATGGTGG
R:
TGATACTCCATACGGCAGGCA
Band lengths:
347-1419
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