HsaINT1011433 @ hg38
Intron Retention
Gene
ENSG00000183914 | DNAH2
Description
dynein axonemal heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:2948]
Coordinates
chr17:7774759-7775342:+
Coord C1 exon
chr17:7774759-7774976
Coord A exon
chr17:7774977-7775240
Coord C2 exon
chr17:7775241-7775342
Length
264 bp
Sequences
Splice sites
5' ss Seq
AAGGTCAGT
5' ss Score
8.68
3' ss Seq
GTAGCTTCTGCTTTCTGCAGGTT
3' ss Score
8.09
Exon sequences
Seq C1 exon
GCCTCCTGGACACATTGATAGAAATGAATACAATCCTGGAAGATATTCAGAAATCTCTGGATATGTATTTAGAGACCAAGCGACATATTTTCCCCCGCTTCTACTTCTTGTCCAATGATGACCTGCTGGAGATTCTGGGCCAGTCCCGAAACCCAGAGGCTGTGCAGCCACACCTCAAAAAATGCTTTGACAACATCAAGTTGCTGAGAATCCAGAAG
Seq A exon
GTCAGTAGAAGTGGCCACAGTGAGATGCTGGGTGGCGAAGGGAGGGTGTTGGGGTATGAAAAGCTTTGGAGGGGACCCTGCCCTCCCAAAAGGAGGGCCATGTTAATTAATGATTCTCAATTCTCAGGGGGATAGAACTTCTTAGAATTGGTAATATTGAGAGGAGGGGAGAGGAGCAGTAATTATCCTCAAAAGGCCCCAGGACTTCTAGGCGGACACCAAGGGTGGGCAGGCCAGGCTCTGAGTAGCTTCTGCTTTCTGCAG
Seq C2 exon
GTTGGAGGGCCCAGCAGCAAATGGGAAGCTGTGGGGATGTTCTCGGGCGACGGCGAGTACATTGACTTCCTCCACTCAGTATTTTTAGAAGGCCCTGTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914:ENST00000572933:29
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:
PF083938=DHC_N2=FE(17.3=100)
A:
NA
C2:
PF083938=DHC_N2=FE(7.9=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCTCCTGGACACATTGATAGA
R:
TGGAGGAAGTCAATGTACTCGC
Band lengths:
292-556
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains