HsaINT0048738 @ hg19
Intron Retention
Gene
ENSG00000115844 | DLX2
Description
distal-less homeobox 2 [Source:HGNC Symbol;Acc:2915]
Coordinates
chr2:172964166-172966374:-
Coord C1 exon
chr2:172966190-172966374
Coord A exon
chr2:172965673-172966189
Coord C2 exon
chr2:172964166-172965672
Length
517 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGGG
5' ss Score
6.92
3' ss Seq
TCAGGTCTTTTTCCTCAAAGGTC
3' ss Score
6.88
Exon sequences
Seq C1 exon
AGAAGGAGGACCTTGAGCCTGAAATTCGGATAGTGAACGGGAAGCCAAAGAAAGTCCGGAAACCCCGCACCATCTACTCCAGTTTCCAGCTGGCGGCTCTTCAGCGGCGTTTCCAAAAGACTCAATACTTGGCCTTGCCGGAGCGAGCCGAGCTGGCGGCCTCTCTGGGCCTCACCCAGACTCAG
Seq A exon
GTGGGGCTCGCGCCCTGCAGGGGCGAGGAGAGCGCGGGCCTGAGATGGCTGGGAAGCAGGCGGGTTTAGGACAATGCTTTTTAAAGTTCATTTTAAGTACTTTTAAGGATTTCCAGGCCTGCGCCTCGAGCGGCCCTAAGTAAGCTTCTAGGCCCAAAGCTGGAAACCCCCAAGGGGCCGCCGTGGGAGGGAAGGAAAGGGACCGGGTGGACAGAAATCCCGTACCTCTCGCTACTGATTAAGCGGGTGAAATAACTGGCCCTCCTCACCCTCCCGCTGTCACCATCATCACAGTGCACGTACACCAGCAGTCCTGGCCTTTTGGCAATTACCTCCCCAGGGAGCAGGAACCGGCAGAGCCTCGAAGGCCGCCGCCCGTGATCCTCTTATCTCCCCAGGGCGCTCGCTGCCCACCGCTAGCCAGCGGTTTTTCTCTGCCTTCTTTTTTCTCCTCTTCGAACCCCTACTGCCCCAAGACTAGGTTCCTCCACTAATGCTCAGGTCTTTTTCCTCAAAG
Seq C2 exon
GTCAAAATCTGGTTCCAGAACCGCCGGTCCAAGTTCAAGAAGATGTGGAAAAGTGGTGAGATCCCCTCGGAGCAGCACCCTGGGGCCAGCGCTTCTCCACCTTGTGCTTCGCCGCCAGTCTCAGCGCCGGCCTCCTGGGACTTTGGTGTGCCGCAGCGGATGGCGGGCGGCGGTGGTCCGGGCAGTGGCGGCAGCGGCGCCGGCAGCTCGGGCTCCAGCCCGAGCAGCGCGGCCTCGGCTTTTCTGGGCAACTACCCCTGGTACCACCAGACCTCGGGATCCGCCTCACACCTGCAGGCCACGGCGCCGCTGCTGCACCCCACTCAGACCCCGCAGCCGCATCACCACCACCACCATCACGGCGGCGGGGGCGCCCCGGTGAGCGCGGGGACGATTTTCTAACCCCAGGGAGAACTCGCCAGAGACTGAGAGCAGAGACCACTTATCCTCATTGCTTACCCCGAGCCGGGGTTCCCTCCTCCCGGCCCGCTGCCGCCACCCACCTCTCCTGCAGGCTGCGACCTGCAGTGGCCCGTCTCAGGCCCTGCTCACTCCCGGGGCCACCAAACGGGCCCCTCTCTCGGGGGAACCGGACAGCAGCTTGGCAAAGGCCTCCCTAAAAGGCCGCATTTCTGACCTGAGCCCCGGGTCTCGGCTGTTTCGAGCCCCGCCTCGGACTTGCCTTCCCTCCCCTCCGGGTGAGCCTGTCTGGCGCCTTCCTCGCCCCGGGCTGAGAGCTGGGTCCCGGGAGATGGAAGCCTCCCAGGCGCGCGAGGCTTCCCGGGCGCTCTGAGGCTTCTTTCTCCTCGCCCGCTCCCCTGGGCTCAGCTCGGACGCTGCAGTTATTGACCTCCCGGTCCCGCCTGCCCGCCCTCCCCCACGTGGCCCCTTGACCCGGGCGGCCCCGCCGCTTCTTTCCTTCCTGCAGTTCCCAGCCCTCGGAGCCCCCATCCCTTATCTTACCCCCACCGCGCTCCCCCAGGAGCGCTCCCTCAGCTCTCTCCTCATCCATCACCAGTGGAGTTTTTTTATTTGTTATTTTTTTAAAAGTTTAGGTGCCTTTGCGGATGACCTCATTTTGACGTTGAAAAAATGATTTTTTAATATGTGAACACTGCAAAAATGTGTTTAAATTATCTTTTTTAAAACCTATTCAGGATTATTAGCCTGGACTTGGACACAGAGTTTGTAAATAAAGGTGTCTGTGCAGATTTTCCCACTGATTTATTTGTATAAAAATACTCATCTTTTCAGACTTTTTTGTAAACCCCCAGTTGTGAAAACTGCAGTTTAGCAGTGACCTCAGCAACCCCTCCTTTTTATTTTTTCCTTTAAAAACATTTCAGTTAAATTAAGCTACTGATTTGGATTTGTTTTATCGTATCCTAAAGTCTTTGTTGTTGAAATGAAAGGTATTTTGGGGTTATTTATTATGAAAACAACATGCTCTTAATGTTGATTTTACAATATGAAGAGATTATTTAAATAAATTATTGTTTTCATTGGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115844-DLX2:NM_004405:2
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.290 A=NA C2=0.759
Domain overlap (PFAM):
C1:
PF0004624=Homeobox=PU(73.7=67.7)
A:
NA
C2:
PF0004624=Homeobox=PD(22.8=9.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCAGCGGCGTTTCCAAAAG
R:
TGGTGGTACCAGGGGTAGTTG
Band lengths:
356-873
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)