HsaINT0048739 @ hg38
Intron Retention
Gene
ENSG00000064195 | DLX3
Description
distal-less homeobox 3 [Source:HGNC Symbol;Acc:HGNC:2916]
Coordinates
chr17:49993400-49995224:-
Coord C1 exon
chr17:49994674-49995224
Coord A exon
chr17:49993591-49994673
Coord C2 exon
chr17:49993400-49993590
Length
1083 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
3' ss Seq
GCCCGGTGCGTTCCCCGCAGTGT
3' ss Score
9.25
Exon sequences
Seq C1 exon
AGCATTTGATTGTGGCTTGGGACGCGAGGAGAGGCGCGCAGCGACCGCCTGACGGCAGGCAATGGTGTAAGCGCCTCTCGGCCTCCCCCTCCCCCCAGACGCGGCCGGGTCCTCCCTTCGCCTTCTGGACACACACCCCTGCCTCGTCTCTTCCGCCTCTCTCGCACTCCGGTCCGTTCCTGTCCTCTGCGGAGGCCAGCCCTGGGGAGGTGCAGCGCCCGCCAGGATGAGTGGCTCCTTCGATCGCAAGCTCAGCAGCATCCTCACCGACATCTCCAGCTCCCTTAGCTGCCATGCGGGCTCCAAGGACTCGCCTACCCTGCCCGAGTCTTCTGTCACTGACCTGGGCTACTACAGCGCTCCCCAGCACGATTACTACTCGGGCCAGCCCTATGGCCAGACGGTGAACCCCTACACCTACCACCACCAATTCAATCTCAATGGGCTTGCAGGCACGGGCGCTTACTCGCCCAAGTCGGAATATACCTACGGAGCCTCCTACCGGCAATACGGGGCGTATCGGGAGCAGCCGCTGCCAGCCCAGGACCCAG
Seq A exon
GTGAGGGCCACGGGGTCGCGAGGACAGTGGGAGACACTGGAAGGTTCCCGAGGGAGGAAAAGGCATGGACTGGAAGCCAAAATCTAGGAAAACTTCTAAGAAAAGTACTGTCTGGAGTTAGAGAAGTTGGCCTAGATGACCCTCAGAGGGACCAGGCGACCTTCCAGCCCCGGGTGTGCAAGCATTTGGGGCGCGATGTGCGCAGTGCGCCGCGGTCCCGGATGAGGATCGGGATGAGCTGAGAGAGGAAGGGGAAGGCTGTGGGTTGTTAGGAAACCTCCGAATCGAGGTGATTTCGTGGGCATTTCAGCAGGCGATCCTCGATCAAGTCGCAGAGGGCTTGGGGGTAGGCGGCAGGGGCTGGAAACTCTAGGGGCCCTCCTTTGGATAAGGGATGGGGAGACTAGGAGTCGTGAGGGGGCAATGAGAAGGACCCACGGAAGTTGCGGGAAAGCGGAGGGAAGCAGCCACCGAGAGGCAGAGAAGCTGAAAAAGGGAAAAGTGAAGGCAGCAAGAGGGAAGTATGGAAAGACAGTGAGAGAAAGGGCAGAAGAAACAAGAAAGGAAGGAGAGAAGGAAGGGGGGAAGAAGGGGGACAGGGAAAGAAAGAAAGTCTGCACTATCCTTGCAACTTTTCTGAAAATCTAAAGAGATTCTAAAATGAAACTTTTTTAAAGGGCGGGGGGCGGACGGGAAGGAGCGAGAGAAACAACCGACGGCGAGATGGGACTGGGAAGGGGGCGGCTAGCAGCCGGGCGGCGAGGAGCCCCGAGGCTGGGAGGCGAGCCGGGAAGGCGTCGTGAGCGAAGCCGAGGCGGTCCTGGCGCAGGCGGCGGCTGGCGCCGGGGACAGTGCTGCGGCGGCCGGGCGCGGAGCTGGGAGCGCCGCGTTGTGGGCCGCGGCCAGTTCTGGCTCTGGGGCCGCGGCTCCCCCCTGGGCCGCGGGCAGCGGAGCGCGCGGCCGGGAATCCCGCGGCGAGTCGGTGGGCGGAAGCGAGGGGCGTCCGGCGGGGCCCTGGAGGGTCGCAGGAGTCGCAGGCCGAGGCTGAACCGCCCCCTCTTCCGCCCGGTGCGTTCCCCGCAG
Seq C2 exon
TGTCGGTGAAGGAGGAGCCGGAAGCAGAGGTGCGCATGGTGAATGGGAAGCCCAAGAAGGTCCGAAAGCCGCGTACGATCTACTCCAGCTACCAGCTGGCCGCCCTGCAGCGCCGCTTCCAGAAGGCCCAGTACCTGGCGCTGCCCGAGCGCGCCGAGCTGGCCGCGCAGCTGGGCCTCACGCAGACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064195:ENST00000434704:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.266 A=NA C2=0.299
Domain overlap (PFAM):
C1:
PF124133=DLL_N=WD(100=74.3)
A:
NA
C2:
PF0004624=Homeobox=PU(73.7=65.6)
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:
TCTGTCACTGACCTGGGCTAC
R:
AGGTACTGGGCCTTCTGGAAG
Band lengths:
356-1439
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