Special

HsaINT0048078 @ hg38

Intron Retention

Gene
Description
disco interacting protein 2 homolog A [Source:HGNC Symbol;Acc:HGNC:17217]
Coordinates
chr21:46534585-46537288:+
Coord C1 exon
chr21:46534585-46534687
Coord A exon
chr21:46534688-46537223
Coord C2 exon
chr21:46537224-46537288
Length
2536 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
3' ss Seq
CCTTCTTTGTCCACTTGCAGCTG
3' ss Score
11.32
Exon sequences
Seq C1 exon
TATAAAACCAGCAAAGAAGGCAGTACGGTGGGGGTCACAGTGTCCCACGCATCCCTGCTGGCACAGTGCCGGGCTCTGACCCAGGCGTGCGGGTACTCAGAAG
Seq A exon
GTAAGGGCTCTCGGGGGTGGGGCGGTGGCCCCTCCAGCCTCACACAGATACCTGACGTACCTAATCATGTGACTGTCACTGCACCTGTCAAAACCACCCCTGGGTAGTGCCTTTGCCCATTAATCCGGGTCATGCCAGGTAGGGAGATGCACTGTCTTTAGCATGCTTACAGGGTCTCTGTGGTTGTGCTGGCCAAGAGGGCACACGGTGTCTCTTAGCAGAGTCCAGACAACCCCATCAGGGTTGTTTTCAGTAAATGCACATGGATGTTGATTTTATGGAACATGGAACCTATATCCCACTGATTGATTTATACACAGTGCTGGGTTCACAGGCCTGCCCTGGGGGGCTGGCTTACTCTGTGACATACTGAGGGTCAGGGCATTTTTCATTCAAAAAGAGGAAAACACTTTTAGTTTTCTATTACTTTATCTATGACTGTAGTTTTGACCTCAGCTGTCATGGATATAAATATATAAGTAGAATCTTTATGGTTATAGATGATCTGTTGATAAAGTATAGTCAGCACCTGATTTACTTCAAATGTCAGATACTTAACTTGAGATATCTTTAAATTAATATTATTTAATTGATAAGTACTAATTGTATATATTTATGGGGTACACTGTGACAATTTTAAAAACTGTAAAAATGGACTCAGTAGTTTTCTTACATTGTAATACTAGAATTGAACAAAACTACTGAGTGAAATTGAATGGTATGTCTAAATATCTAAAATATAGGTGTTCAGGCCAGGTGCAGTGGTTCATACCAGTAATCCCACCACTTTGGTAGGCTAAAGCAGGAGGAACACTTGAGGTCAAGAGTTTGAGAGCAGCCTGGACAACATAGTGAGACCCTGTCTCTACAAAAAAAGGGAGAAATTTTAAATAGAATTTTTAAAAAAGAAAAAAATATAGGTGTTTAAAAGCAAGGGTATAAGTTGAGGGCACAGCTAAAGCTTTTACTTGAGATTTGGAAAGTGATTTTAGGTATTTTTTAAGGGCTTTATTAAAAAAGTTAGATCTTTCAGATCAAGCCCCGTGACTTTCTTTGTCTTCAGCTCAGAGCTGATCTTACATATGTCACCTACAATTTGGGTTCTTTAGCCAGGCGTGATGATGTGTGCCTATAGTCCCAGCTACTCGGGAAGCTGAGGTAAGAGGACCGCCTGAGCCCAGGAGTTTTGGGCTGTAGTGGGCTGTGCTAACCAGGTATCTGCACGAAGTTTGGCAGCAACATGGTGACCTTCTAGGAGTGGGGAACCACCAGCTTGCTAAGGAGGGGTGAACCGACCCAAGTAGGAAAGGGAGCAGGTCAAAACTCCCATGCCAATGAGTAATGGGATTGTGCCTATGAATATTCACTGCACTGCAGCCTGGCAACGTAATAAGACCTCGTCTCTAAATAATAATGATAATAATTTGTGTTCTTAACCAACAGAGAAAGGGTGTTTATAGTACTGTTATTCATGGTGCAACAGCATTTCCTGGCACACAAATCAAACCTCTCCTGTTTGCCTTTGGAGTGCTGTGGCCTTTGGCGAGAAGCCAGGTCTGCCCACAGCCCCAGGCTCTGTCCTTTCTGCCTGTGCAAGGTGGGAGCCGGATATTAGAGAAGACTTGGCCAGGGGCTCTGAGCAGAGAGCTGTGCTGGGAACCCTCAGGACCCCTATCCACTCCAGCTTCCTAAGATGTGTTAGCTGCATACCTCTGGGTGAGAAAACGGGCAGAGGAAGAGTGACTTTCCGAAGGGTGATGCAAACCACCAGCTCTTACAGAGGGGAGATGCCGGATCACGGCCTCTGGGTGTGAGAATTGAGGAGATGTGGTGTAGAGTTGAGAAGTAAGAATATCCCTGACAGTTTTTCATCCCCACCTCTTGATTCTGAGAAGAATACCCACTCAAAAATATCTGATGAGAAGATGTGGAGAGGCCGAGTGCGGTGACTTACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAATCCCTTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGCAGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTCAGACAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCTCCATTGCACTCTAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGAAGAAAAGACAAGCTGTGGTGACACCTTGTATAGCTTCTTCAGTATGTGATGTTCCTGTGCCTTCTGATTAGTGCTCAGCGTGGTTCTCTGTGTTAGTTCCATGACCTTCTACTTTTATGTGTTTCCAGTAATTTGAATAGATAACCAGGATTATTATTAATTGGTATGTGGTATTTGGAAATGCTGTATCTGTTCCTGAAACTTACATGTTGATGACGTACTCACCTCAGAATTTCTCTAGAAAATGCATAGGGCTTATTGAGAGGGTTGCTCAGTGGTGTCACCTTCTTTGTCCACTTGCAG
Seq C2 exon
CTGAAACATTAACAAACGTGCTGGATTTCAAAAGGGATGCTGGTCTGTGGCATGGCGTGTTAACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160305:ENST00000400274:13
Average complexity
IR
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:
PF0050123=AMP-binding=FE(7.1=100)
A:
NA
C2:
PF0050123=AMP-binding=FE(4.4=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


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