Special

HsaINT0048737 @ hg38

Intron Retention

Gene
Description
distal-less homeobox 2 [Source:HGNC Symbol;Acc:HGNC:2915]
Coordinates
chr2:172101462-172102900:-
Coord C1 exon
chr2:172102139-172102900
Coord A exon
chr2:172101647-172102138
Coord C2 exon
chr2:172101462-172101646
Length
492 bp
Sequences
Splice sites
5' ss Seq
CTGGTATGC
5' ss Score
6.73
3' ss Seq
ACGATTCTTTATCGTTGCAGAGA
3' ss Score
7.7
Exon sequences
Seq C1 exon
AGACAATCGTAAAGCCGCTCGGGGCCGCTCACCTGCTCCCGCCTCCCAGAGCCCCGACCCGGCCCAGCCACCCCTGCCCCCTCCACTGCCCGCCCCCCGCCAGAGCCCGCGCTCGCGCTGGGCAAGGAGCCGAGCGGGCCCAGAGGCCGAAAGAGGATGCGACCAGAGGCAGCTGTCCCGAGCAGCGCACGGTGATCGCCTCCCCCGGAGGAGGAGGCGCCTAGACGGTTGCCTCCTTTCTTGTTTCCCCACCACCACCCCCGTAATTACATTGGCTGCTGGAGGGGACCGGGAGAGACAGAGGAGGCGCCTGGCTTCCCCCGCACGCCCGCCACCTCTGCTCTTTCCCGTCTCGGGCCAGGATGACTGGAGTCTTTGACAGTCTAGTGGCTGATATGCACTCGACCCAGATCGCCGCCTCCAGCACGTACCACCAGCACCAGCAGCCCCCGAGCGGCGGCGGCGCCGGCCCGGGTGGCAACAGCAGCAGCAGCAGCAGCCTCCACAAGCCCCAGGAGTCGCCCACCCTTCCGGTGTCCACCGCCACCGACAGCAGCTACTACACCAACCAGCAGCACCCGGCGGGCGGCGGCGGCGGCGGGGGCTCGCCCTACGCGCACATGGGTTCCTACCAGTACCAAGCCAGCGGCCTCAACAACGTCCCTTACTCCGCCAAGAGCAGCTATGACCTGGGCTACACCGCCGCCTACACCTCCTACGCTCCCTATGGAACCAGTTCGTCCCCAGCCAACAACGAGCCTG
Seq A exon
GTATGCATAACGCTGAAGTCAAGAGTGCCGAGTCGGTCTAGTTAATGGGATGGATGGGTAAACGTGTTTGGGGCGGGGGGCCTTCGAAAGCTCTGGATTTTCACGCTGCCTGCTCACCGCCCGCTTGTGCCCTTTACCCTCCCCAGCCTCCAATCTGCCGCAGGTCGCCGGTTACGTCCCTCTCTCCTTTGGTAGGACCTGGTGGCCTCAAGAGCCAAGTGGGCGTGCTCTGCCTGCCTCATAAGGGCATCTCCTTGCCACCAGCTTCTTTCTCTTGGGTGTGCACTTGTCTCCCCCTTCCCTGGAGGGTACAGCTCCCGGGGTCGGTGGCGGCTCCGATCGCACGCTGCGAAGTTGCGCCTGCCCGTGGCGCCACAGTTCAGTGCACCCACCTCTTTGCTCAAGCCAAGTCCCCCCCGCCGGGCCCTCTAGGAGGGCGGGAACTCCAGGACCCCTGGGTTGCGCTGTTCTTACGATTCTTTATCGTTGCAG
Seq C2 exon
AGAAGGAGGACCTTGAGCCTGAAATTCGGATAGTGAACGGGAAGCCAAAGAAAGTCCGGAAACCCCGCACCATCTACTCCAGTTTCCAGCTGGCGGCTCTTCAGCGGCGTTTCCAAAAGACTCAATACTTGGCCTTGCCGGAGCGAGCCGAGCTGGCGGCCTCTCTGGGCCTCACCCAGACTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115844:ENST00000234198:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion (1st CDS intron)

No structure available
Features
Disorder rate (Iupred):
  C1=0.664 A=NA C2=0.263
Domain overlap (PFAM):

C1:
PF124133=DLL_N=WD(100=61.2)
A:
NA
C2:
PF0004624=Homeobox=PU(73.7=67.7)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACCGACAGCAGCTACTACAC
R:
TGAGTCTTTTGGAAACGCCGC
Band lengths:
342-834
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