HsaINT0049167 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52368741-52370019:+
Coord C1 exon
chr3:52368741-52368918
Coord A exon
chr3:52368919-52369824
Coord C2 exon
chr3:52369825-52370019
Length
906 bp
Sequences
Splice sites
5' ss Seq
GAGGTGCAC
5' ss Score
2.13
3' ss Seq
TTGGTTCGTCTTGGCACCAGGCA
3' ss Score
4.41
Exon sequences
Seq C1 exon
GACAGACGGGATATTCTCCTCGTTCATCCGGGCGGGGGCCATCACCTCCGACACCAACAAGAAGTGGTACATGTTCGATGGGCCGGTGGATGCCATCTGGATTGAGAACATGAACACGGTGCTGGATGACAACAAGAAGCTGTGCCTCAGCTCTGGGGAGATCATCAAGCTCACAGAG
Seq A exon
GTGCACCTACCTGTCCACCTGCCCACTCTCCTCCAAGGCTGGGTGGGCCTGGAGGCTGCATCATGCTGGCCAAACTCTGCCCCCTCACCCCTTTCTCTCAGGGCCATGGGTCCATCTCAGGCTGTCACCCTGACTCAGCAAGAGCCCTCCTGCTAGCAGGAGCTTAGGCTCAGCTCCTAGTGCCCCTCCCTGAGCTCCCACACCTCAGGGTGTCCCGCACAGTTGCTCAGAGCACCCTTTACACAGACCCTCTTTCTTTTGTGCTCGAGCCCACCAGGATGCCTGTCCCACTGCTCCCCGGCTGATGATGCCTCTTGCCTCCCAGGCCCAATTTCAGCCATGTTGCCCCAGTCAGGTCAGGTGGGGTCAGGTGTGCACCTGGCCCTGGCAGTATGCCCGGGGTCTGGGAGATGGATGGCATAGACACCACGGGGATCTGTCTGGTGTGTGAGGAGCAGTTGTCAGAGAAAGAGGGATATGGCCTGGGCACAAGAGCATCTCAGGGGTCTACACTGAGTCCAGCTCTTGAATCCTTCTAAAAGCAAATACCTGGCAGTCAATGTGGACCTGTGTCTATGTGCACAGGGGTGGAGGGCTCTGGAGCAAAATACACAGTTCCCATCAGATGTGCCCAGGCCTCCAGGGACCCCAAAATGCTCTGACCCCAGTCTGGTCAGCGAACCTCAGGAATCTCCTGACTTGGGGTCCTCCTCAGGGCTCCAGGGAGAGCCACGTTATCAGCTGAGGACCCAGCGGTTCCTGTCCCACCCAGCACTGCCCCTGCCCCACAGCCTGCCCACACCGCCCACTTACAGGATGTGCAGCCCCTCCCCGCAGCCCTGCAGCCCTTTCTCCAGGCCTGAGGACTGGCAGCCAGCCCACTCATTTGGTTCGTCTTGGCACCAG
Seq C2 exon
GCAATGACCATGATGTTCGAGGTGCAAGACCTGGCGGTGGCTTCACCAGCTACAGTCTCCCGCTGTGGCATGGTGTACCTGGAGCCCAGCATCCTGGGGCTCATGCCCTTCATCGAGTGCTGGCTGAGGAAGCTGCCTCCCTTGCTGAAGCCCTATGAGGAGCATTTCAAGGCCCTCTTTGTCAGCTTCCTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:37
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:
PF077289=AAA_5=FE(40.1=100)
A:
NA
C2:
PF077289=AAA_5=PD(14.3=32.3)
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:
ATTCTCCTCGTTCATCCGGGC
R:
GAGGGCCTTGAAATGCTCCTC
Band lengths:
343-1249
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