Special

HsaINT0048088 @ hg38

Intron Retention

Gene
Description
disco interacting protein 2 homolog A [Source:HGNC Symbol;Acc:HGNC:17217]
Coordinates
chr21:46551824-46554292:+
Coord C1 exon
chr21:46551824-46551904
Coord A exon
chr21:46551905-46554168
Coord C2 exon
chr21:46554169-46554292
Length
2264 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
3' ss Seq
CTCAAAGATCGCTTTCCTAGGGC
3' ss Score
3.94
Exon sequences
Seq C1 exon
TTCCTGTTCCTGGCTGACGTGCTGCAGTGGCGTGCCCACACCACTCCTGACCACCCGCTGTTCTTGCTGCTGAACGCCAAG
Seq A exon
GTGAGGCAGTGTCACGCCCACGGGGCTTGGAAACACCTGTGGGCCGGTGGAGCCCTTTGCTTGTCTAGTTCATGGTGCCAGTGTCCTGGTTGTTCTCATGTTTAGAGAACAGGGTGCCTGTGGACTCAGCCCCCGTCCTGGTTGTTCTCATGCGTAGAGAGCAGGGTGCCTGTGGACTCAGCCCCCTTGTCTGGTGCGGTTCTCGCTGCCTGCCCTTTCCTTTCTTGTTTTCCACACATTTCACACAATAGTATTTCTATTGATTTTGTGTTTAGCAGGAAAATTTTTATCAGCTCAAGTTTTTAAAATTAAAAACAGTATACATGTAAATATTCCTAAGTTTGTGAGCTAAAAGGAAATGTTTATTTTGTAAAAAATTAGCCATTTAGAATTTCTACATTTGGTTACAGCTTTTAAATGACAAATGTTGCTTCCTGCCCTGCTCCTGCTGCTGATTTGGAAATTCTCATGTGTTTCAAGTTCCTGTTGTGTGCATTCCACTGTGCTAGGAACATTCAGGATGTCAAGAAGGAGAAGCTGTAATCTTCATATTCAGGTTGTGGGCAGGAATGCGAAATGCGGAAACACAGAAAGTTAAATAACTTAAAACCCTGCAAGGCTTCCTGTCCCACGCACCATACAAGCTGTAAGAACTCTTAAGCTTTGGTGTCGTAAAGAGTAGGTCACTGTGGCTTAGAATATGCTCTTCTAGCTCTTGGTGCTGCTCATTCGAATTAAAAAAATACTTAATGATGCCTACAATGTGCACAGTGCACAGTAATAAGATTAAAAGGACCCCTACTCTCAGGAGGCTTAAAATCAGTCTTTCCTGCTAGAAAACAAGTTCCGTAGGAGAGAGACTTTGTTTTTCTGGTGTATTGGAAGCATCTAGAACCATGCCCAGTAAACATTTATTTTATGATTGATTGAGTTCTAAAGCCTACAAACCAGCCAGTGATTTATCATTGACCAAGGTAAAATCAGCTTATGGTGTGAACCTCAGTATCAATACAGTGGAGTGATGTAACCTGGAGTGCTGGGGAGGGGGCTTTGAATGGAACTGGGTAGCAGGGGCTATGAAGAATGATGCCCAGTGGCTCAAGGCAGGAAAGGAGGCCAGTGTGGTGGGGGCCAGGTGGTCCCAGGTAGGGGATGCAGATAAGGCTGGGGGTCGCTGGGTTTTCCCTAAGGATGCAGTGGGATCCCAGACCTTGCGGGCTTTGAGTCCCAGTCCAGATCTCAGGTTCTGTCCTGATGGGGCCCTGACTCATATGGACTGGCAAAGCTTCCGGGATTTGGAATCTCAGGATCTGCCCAGCCCTTGTGCCTGGACACAGCACATAAGTGCGTCCACTGGTCTCTCTCTTCCACTGCCTTCTGTCAGTAGAAGCCACCAATCGAGAAACAGGGAGTTTTGATGTTACACTGGTCTGCTCTGGAGTTTTATATTTATTAGACTGAATTGCACTTTTTATCTTCTTAAGAAGGACTAAAAAAGCTGCGAGGCCTGGCAGGGGATCAGGGAGGATGAGTGTCCTGAGCAGAGAGGTAGGGTTACCAGGTATTTCTGTTTGCCTTGAACTGGTCACATAGCCCCAGTGCCCCTCAGCAGAGAGACAGGGTGAATGAAGGAGCTGGTGTAGTCAGTCCTAGAGGAGACACACAGATGCCTCTGAGAAAGCCGGTTGCAGATGACACACGCCCAGGCTCAGTGCAGGTGACCTGTGGGCATGGAAAGTAGTACAATTCAGGGATGTTTGCTTATCGCTTATTATGTATTTATAATGGTGTCGTATGGAATATTTTATTGAAAAGGCCAGAAAGGTCTTCTTTACCCACGTGTTTCTGGCTCTGCCCTGGGTGAATGGAGTGCCCGCATCTCTCCCTCTTAGCTGGGACCACACAGGAGATACTTGCATGCCTGTCCCTTCACTGCTAGTGAGAGAGTACAGATGGTGAGAAAAGACACCAGTCGTGGACCATGTGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGAGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAAAAAGACACCAGCCGTACGTCTAGGACTGACACATTGTCATTATCATGGACGCTAATCACAAGGTGTCGTGTGCAGTGGCGTGCAGGTGGTGTGCACGCAGATCTGCGAACAGCCCACCTGCACGCACCAGCATACAGATGAGCTCAAAGATCGCTTTCCTAG
Seq C2 exon
GGCACCGTCACAAGCACTGCAACCTGTGTCCAGCTGCACAAAAGGGCTGAGAGAGTGGCCGCGGCTCTGATGGAGAAGGGAAGACTGAGTGTTGGGGACCATGTGGCTCTGGTCTACCCACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160305:ENST00000400274:25
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=PU(10.7=70.4)
A:
NA
C2:
PF0050123=AMP-binding=FE(23.2=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Zebrafish
(danRer10)
LOW PSI
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