HsaINT0049191 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52388418-52389586:+
Coord C1 exon
chr3:52388418-52388937
Coord A exon
chr3:52388938-52389460
Coord C2 exon
chr3:52389461-52389586
Length
523 bp
Sequences
Splice sites
5' ss Seq
ACGGTAAGA
5' ss Score
10.65
3' ss Seq
TGAGTCTGGCATCTCCCCAGGGC
3' ss Score
7.36
Exon sequences
Seq C1 exon
CAAGCCCTGCTGGAGGCCCAGGATGACCTGGGGGTGACACAGAGGATCCTGGATGAGGCAAAACAGCGCCTTCGTGAGGTGGAGGACGGCATCGCCACAATGCAGGCTAAGTACCGGGAATGCATTACCAAGAAGGAGGAGCTGGAGCTGAAGTGTGAGCAGTGTGAGCAGCGGCTGGGCCGAGCTGGCAAGGTGCGCACCCTCCTCCTGCAAGGCCTGCAAGCGGGCCCGGCCCAGACAGGGGCCAGAAAGGACCAGGGCGCCGGTGGGTCCTGGGGTGGCTGTCCACACCCCCTCCCTGGCAACCCCAGGTGCCACAGTGGGTAGGGCCAGCCCCAGGCCCCTAGCCCAGCCTCCCAGAGCCCACCCCACGGGGCTGCCCCTCCAGCTCATCAACGGGCTGTCGGATGAGAAGGTGCGCTGGCAGGAGACGGTGGAGAACCTGCAGTACATGCTCAACAACATCTCCGGCGATGTCCTGGTGGCCGCTGGCTTTGTGGCCTACCTGGGCCCCTTCACG
Seq A exon
GTAAGAAGTCCCCACCTCTGTCTCTGACCAGCCTCGCCTTCCCAAAGAGACCCTTCCCCCTTGAGGCCTCGCCTCCATGATAGGCAGCCTGCAGGTGGCTCTCCGCTCACTCAGTCATTCAACAAGCACTTAGCAGGCTCCCTCTCTGAGCCAGGCGCTGTAAAGCACTGGGGATACAGCAGTGTACAAAACAGCCAGAAAAGCCACCTAGTGGGAACATAGAAGAGCTCACACTTCTGCACTTGCTGCATGCCAGGCACTGTTCTAAACATGCCACCTGTGTCCCATTTAATCCTCATAGCCGCCATTACAGGCAGGCATCGTTAGCTTTGCCCGTTTCACAGATGAAGGGCTGAGGTTTGTGGAGGCCAAGAAAGTCACCCGAAGTGGGATTAGAATGCAGGTATCTGGCTCCATGTCTGAGCTCAGATCTCTGCAACTGCCAAGCACTGTGGCTTAGTGGGAGTTGGGAGGTCTCTGTGAGTGTCATGGTGGGGTGGTCCTGAGTCTGGCATCTCCCCAG
Seq C2 exon
GGCCAGTACCGCACGGTGCTCTACGACAGCTGGGTCAAGCAGCTCAGGAGCCACAATGTCCCACACACCTCCGAGCCCACGCTAATCGGGACGCTGGGGAACCCTGTGAAGATCCGATCGTGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:58
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=0.071
Domain overlap (PFAM):
C1:
PF127772=MT=FE(17.9=100)
A:
NA
C2:
PF127772=MT=PD(17.7=33.3),PF127812=AAA_9=PU(4.3=23.8)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGACAGGGGCCAGAAAGGA
R:
GAGGTGTGTGGGACATTGTGG
Band lengths:
357-880
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