HsaINT0049659 @ hg38
Intron Retention
Gene
ENSG00000183914 | DNAH2
Description
dynein axonemal heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:2948]
Coordinates
chr17:7821243-7823628:+
Coord C1 exon
chr17:7821243-7821369
Coord A exon
chr17:7821370-7823441
Coord C2 exon
chr17:7823442-7823628
Length
2072 bp
Sequences
Splice sites
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
3' ss Seq
TCCTCCCCTTCTCCCACCAGGTC
3' ss Score
12.86
Exon sequences
Seq C1 exon
GTACACCTGCCGTACCCTTTTCGAACGCCACAAACTACTATTCAGTTTTCATATGTGTGCCAAAATCTTGGAGACTTCTGGCAAGCTCAACATGGATGAATACAACTTCTTTCTACGTGGGGGTGTG
Seq A exon
GTGAGTTGGGCAGAGAGCACATCCCAGGATGGGATGGTCAAGGTTGGGGATGAGGGCAAGTGTGACAAGGACTCCAGACCCAGAGGGTCAGGCCCACAGCATCAGTGAGTGAGCTGAGAAAATCCAGGCCAGCATCAGGTGCATGGTGAGCTCCCTGGGGCTGCGGAGGTGACTTGCCATGCACCCCCTTGCACTCAGCGCAGGCTGGGCTTTGTGGCATGTCTCACCTGTGACCCACAAACTGGCCTGATCTTGCCGCTTTTTTACTGCCTTTCAAGGCACTCCTTCCCCAGCCTGAGTTCCATGGTCGCCCTCACAATCTCTCCCTCACAGGCTCCTCAACCCCAGCTTTTCTCCTCTCTCTGTCGCATCTACCGCTCTGGCTAGATCCAGCTCCTCTTCCCCTCTGTCCCTGCGCGGCCAGTGCACTGAGCATGGCCGGAGAAGAACACATCCACACCGACTGGACGCGCTTTAAGTCCATGATCGTGAACCTCAAGGAGGCCCCTAAGGCTTCCAGACAACCATGCTGCACTCTCCCGCCCTCCTAGACATTTTCTTGACTTTTCCCACCTTCACTTCCTGCCTCCCACCCCAAACTCTCAACACAGCAACCAGAGAGGTCCCACTCTGTCACTCACTGTGGCTGGACCGCAGTGGCAGTGATCTTGGCTTACTGCAGCCTCGACCTCCCAGGCTCAAGCCATCCTCGCATCTTAGCCTCTGGAGTAGCTGGGACTACAGGCCTGCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAGAGGCGGGGTCCCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCGGCCTGAGAGGTCCTTTTAAAGTGGATGCCATTGTGACGGGCTCCCCATGGCTGGCGCCACCTCCCACCACACAGCCCCCACTCCACTCCAGCCACGCAGGCCTCATTGCCCTCCCCAAACCCCCTGGCACGTCTCGCCTCAGGGCCTTTGCGTGGCCATGCCTTCTGCTGGAAGCCTACTCCCCGGCGTGTGCACCTGGCCATCTCTCACCTCCTTCAGACCTCACCTCAATGCGACCTTGATCTTCTTATTTAATACTTCAAACTACCCCTCAACACTCTCAGTCTCCCTTACCCTCCTCAGAGTATCCTATTTTTCCTTGGCACTGCCGTCTTTGCTATACTAGATAATTTACTTATTTGTTATGTTTTTGGTTCATAATCTGCCCATGAATTCACAATCCCATGTTAGAAAATAAAATCCCCAAGGGCAGATATATTTGTCCATTTTGCTCAGTAATGCATCCCAATGATTAAAATGCATAGTTGGCGAACAATAAATATTTGTTAAGAAGAATGAATAAGCAAGTGAGTGAATGAATGAGTAAATAGTTTGTGCTTCTGTGAAGGTGAGGCTACCAACCAGTCATTAGGTTGGAGACATTATTACCAGGCAACCAGCAGAGGGCGCCAGCTTCCTAAATTTGAACTGTGAGGGCTAAGGGCAGGGTCTGAGTCCTAGCCCCCACGTTTATTCCCCAGGATCCCTGTATTCATCTCTTCACTCTCATACAAAAGCCATTTTGGGCTGGGCGCGGTGGCTGACACCTGTAATCCCAGTACTTTGGGAGGCCGAGGAGGATGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTGTCTACTAAAAATACAATAATTAGCCAGGTGTGGTGGCGAGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGGGTCAGAGGTTGCAGTGAGCCGAGATTGTGCCATTGCACTCTGGCCTAGGTGACAAGAATAAGACTCCATCTCAAAAAAAAAAAAAAAATTCCATTTGGTTTTCCCACCGAGAGAGAGAAAAATACAGAGAGAGAGAGAGAGAGAGAGAGGAGAAAAAGATCACTCTTCTTTTGAAGTATTCCCAAGTCAATCCCTTTCTTCCTCCCCTTCTCCCACCAG
Seq C2 exon
GTCTTGGATCGGGAGGGCCAAATGGACAATCCATGTAGTAGCTGGCTTGCAGATGCCTACTGGGATAACATCACAGAGCTAGACAAACTGACCAACTTCCACGGACTCATGAACTCCTTTGAGCAGTACCCTCGTGACTGGCACCTGTGGTATACCAATGCTGCCCCGGAGAAGGCGATGCTGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914:ENST00000572933:73
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:
NO
A:
NA
C2:
PF0302810=Dynein_heavy=PU(11.8=92.1)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
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
- Autistic and control brains
- Pre-implantation embryo development