HsaINT0049150 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52354843-52356778:+
Coord C1 exon
chr3:52354843-52355055
Coord A exon
chr3:52355056-52356613
Coord C2 exon
chr3:52356614-52356778
Length
1558 bp
Sequences
Splice sites
5' ss Seq
CAGGTCGGC
5' ss Score
6.32
3' ss Seq
CCTGCCCCTCCCCTCCCCAGGAG
3' ss Score
11.8
Exon sequences
Seq C1 exon
GCACTGGACAAGATGGAGAAGGAGTGGTCGACCATCCTGTTCAATGTACTGCCCTACAAGGCGACAGACACCTACATCCTGAAGAGCCCGGACGAGGCCTCACAGCTGCTGGACGACCACATCGTCATGACCCAGAATATGTCATTTTCACCCTACAAGAAGCCCTTTGAGCAGCGCATCAACTCCTGGGAGAACAAACTGAAGCTGACCCAG
Seq A exon
GTCGGCCCTCCCCCCAGTCCTTCCCTCATCGCTCCCCCACTTCAGAGAGCCCGACCCACAGGTGTCACTGATGGTCTCCGGGTGGGGTTCAAAGCATCGCAGTGCCTTGCCCTCATTCACACAGCCCCTGGCTCTCTGGCAGGCCCCGCCCTACTGCATTCAGAGGAGGGCAACTAGGATGGGCTCTCCATCCATGAGGTTCAGCTACTGGATGAGGCAGATAAGGGTGCGTAGGGGCAGCATTTGGGTCCCAAAATGTGGTTGAGGATAGGCCTGAGAACTGCCAGGCGGCCTCCCCAGGGCTGCCTGAGCTTGGGACAACCAGGTCCTCCAGTACTGACACTTTCTGGGCCGGATGTCCCAAGGTCCCAGAGCACCTCAGTGCCCTTTCCCACTCTGTCCTGAGCTTCTGTTCTCATCTCATTTGGAGCTACCTTGGTTGAGGGGACTGGGCCACCAGGGACTGCACTTGTCTTGGGCTCTCAAGGCTAGAGGCAAGGGCTGCCCACAGAGCCCTGGAGGGCAGTCCCGGGGCCAGCCTGCAGGTGTGATATCCCCTTCCCCGGGCCTCCCTGATAGCTGCTCAGAGACCTCCGGCGAAGGCCAGAAGCAGGTGGGGAGGGCTCATCTGTGTGCCTGGACCACCCAGAGATGCCTGAGCTGGTCAGCACTATCCCCAGTCCCCCTCTGCTCACGCTGTCCACTCGACCTGGAGTTTGACACCCGCCTTCCATCTCCTCCAAGGCCCAGCAACAAGCAGCCTTGCCGACTCTCCCTCACCATCCTTCAAGGGGTTCCCACCGAGGCCATTGTCGGTGCCTCTTTCAGAGTCCACTACACATGCCGGGCCCATGATTCAGGGGCAGAACTGGCCCCTTAGTGGGCTGTGGGCCCCTCGAGGGAAGGGACCAGGCCGCATTCCCCTGTTTCCCCTAGTGCCTCCCAGGGCCTGGCACAGTCCTGACACTGCTGACTGTGACCCCCATCCCATGAGGAAGAAATGGATGAGTGCGTGAGTTTGCGCTGATGGGAGAAGACAAGAGATACATCCTGAATGGGGAATTTGGAGGCAGAAGGGGGAAATGGCTCATTTTGAAGATGTCTCACCCTTGGACTCATGTTTCAGAGAGTATTTTAGGACTCTCACACTCAAGACCCATTGAATCTCAGAGAATCCTGGGGTCATGGACCCAGAAGTCCTTCCAGGAAGGAGGCTGGTTTGTCTCCCAGGCACCGAGTGTTTCCTGTCACTGCAGGCTTTGCTGGCGTGGGTGTGTTCCTCCCTTTGGAAGAGCAGCTCCCCCGGCTCCTTTGGAGGCTTGGGCGTCCTGTGGGGATGTGGGACTTCTCTGGAGGGCAGGCATCCCTGTATCCTCTTTGTTCCCTGGAGTATCACAGATGACAGCACCATCTAGAAATCTCCCTGTAGACACTGGCTTTGGTGTCCAGTGCTCTGCCCAACATGCTGGTGGGGTGAAATGTCCCAGTCATTGGGACAAACCCCAGCTTGGACCCTGACAGTCCATATCACACCCCTCCCTGCCCCTCCCCTCCCCAG
Seq C2 exon
GAGGTTCTGGAGGAGTGGCTGAACTGTCAGCGGTCCTGGCTCTACCTGGAGCCCATCTTTAGCTCTGAGGACATCAACCAGCAGCTGCCTGTGGAGAGCAAGCGCTACCAGACCATGGAGCGGATCTGGAAGAAGATCATGAAGAATGCCTACGAGAACCGGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:21
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(17.0=100)
A:
NA
C2:
PF083938=DHC_N2=FE(13.1=100)
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:
GCACTGGACAAGATGGAGAAGG
R:
TCTTCTTCCAGATCCGCTCCA
Band lengths:
349-1907
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