HsaINT1011501 @ hg38
Intron Retention
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13830026-13830775:-
Coord C1 exon
chr5:13830597-13830775
Coord A exon
chr5:13830214-13830596
Coord C2 exon
chr5:13830026-13830213
Length
383 bp
Sequences
Splice sites
5' ss Seq
AGGGTATGG
5' ss Score
7
3' ss Seq
CATTTAATTTCCTTTCGAAGGAC
3' ss Score
7.65
Exon sequences
Seq C1 exon
ATGTTACATCACGCTGGCTCAAGCTCTGGGAATGAGCATGGGGGGAGCCCCTGCTGGACCTGCAGGCACAGGCAAAACAGAAACCACTAAAGACATGGGACGATGCCTCGGGAAATACGTCGTGGTTTTCAATTGTTCAGACCAGATGGATTTCCGAGGACTTGGACGGATTTTTAAGG
Seq A exon
GTATGGGTTATATTTTTTAATCTGGTGAGAAATTGCAGCCAAGGTGGAATATTTTGCTAAAATTTGTTTTCAACAATTGGCCACATTTTAGAATCATTTTCAACTTTGTAAAATTTTTTGGAAAATCTTCAATCTTGCCAGGTTGTGTGGACCAAATGTTACTTCCTCCTGACTTTTTTTTGATATTCCTTTATCTTGGGTGTTTACAGGTGAAGTGCCAAATTGTAAGCTGTTTTGGGTCACTTGATGCATAGATCTATTTGTTGCACTTTACTTTTGAATGAACTTACATCTGGCTCATTTTAGCAGCTACATAATATCCTTTTTCTTGGTTTTCTAAAATTATATACTAATTGGATTTTTCATTTAATTTCCTTTCGAAG
Seq C2 exon
GACTGGCACAGTCTGGATCCTGGGGTTGTTTTGATGAATTTAACCGTATTGATCTACCAGTTCTCTCGGTTGCAGCCCAGCAAATTTCCATTATTCTGACATGTAAAAAGGAGCACAAAAAGTCTTTTATCTTTACTGATGGAGATAATGTGACTATGAACCCTGAATTTGGGCTTTTCTTAACCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139:ENST00000265104:36
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.148 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF127742=AAA_6=FE(25.9=100)
A:
NA
C2:
PF127742=AAA_6=FE(26.7=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTACATCACGCTGGCTCAAGC
R:
CCCAAATTCAGGGTTCATAGTCACA
Band lengths:
349-732
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains