HsaINT0049184 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52383860-52384977:+
Coord C1 exon
chr3:52383860-52384031
Coord A exon
chr3:52384032-52384785
Coord C2 exon
chr3:52384786-52384977
Length
754 bp
Sequences
Splice sites
5' ss Seq
CTGGTGGGT
5' ss Score
6.29
3' ss Seq
CCATGGTCTTCCTCCCCCAGATC
3' ss Score
10.64
Exon sequences
Seq C1 exon
CCCCATCGGAGAGGTCTTCCGAGCTCGTCTGAGGCAGTTTCCCTCCCTGGTCAACTGCTGTACCATCGACTGGTTTAACGAGTGGCCGGCAGAAGCCCTGAAGTCTGTGGCCACCGTGTTCCTCAATGAGATCCCAGAACTGGAATCCTCCCAGGAAGAAATCCAAGGACTG
Seq A exon
GTGGGTGTCTTGCTGAAGCTCAGGCCCTTGGGGAGACCTGTTTAGCTTGGGGCATGGGCTCAGGGTCACCAAGGTCTGGGTGAGATTCCCAGGCCCACCACCGAGGGTAAGCTTTTGGTCAGGCTGTGTTTCCTGTCTAAGCCTCCATTTCCTCATCTGTAAATGCGCAGAGCCACAGGTCATCACAGTGACTAGGGTGCTGCGCACACAGCTGCACGGGTACTGCTTCCCTTATTCCCTGAGGGCCCCATGGTGCTTTCTTCCAAGAACCCCCTGATAGAACTCCAGAGATCACAGATGGGGGTGTAGATTTGCCTGGTCCAGCCTGAGACGGTGACAGTCCCAACATTTCCCTACCAGCTGTGCTGAGGCCTTGGGCCCTGTCTCCCCCTAGATCCAGCCTCTGAGGGGGAACCACCTCAGGGCTCTCAGAGAGAGGCAGGTCATGGGGGCTGTGAAAAGACCACTGGGCCAAGAGCTGGGAGACAGCTAGGTCCAAGTTCAAAGCCAGCCCAGCCCTTGACAGCTATGTGAACTTGAACTAACCCCTGGACTTCCCTGGGCCTGGGGTTTTTCATCTGCACAAAAGGTGACCTCGACCTGGAGGTCGTGAGGCTCATAGAGTGAATGTGAGAGGCATGGAGGTTCCTGCTGTGGCCCCCTCCTCGGCCCAGGTTGCAGTGGCTGTGGGCACCCAGTCCCTGTCTTTCCTGGGGCCTCTACCAGGCCGGCATCCATGGTCTTCCTCCCCCAG
Seq C2 exon
ATCCAGGTCTGTGTGTACATCCACCAGTCGGTGTCCAAGAAGTGCATCGAGTACCTGGCAGAGCTGACCCGCCACAACTATGTGACCCCCAAGAGCTACTTGGAGCTGCTTCATATTTTCTCCATCCTCATCGGGCAGAAGAAACTGGAGCTGAAAACTGCCAAGAACCGCATGAAGAGCGGCCTCGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:52
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:
PF127802=AAA_8=FE(21.0=100)
A:
NA
C2:
PF127802=AAA_8=PD(15.9=67.2),PF127772=MT=PU(2.3=12.5)
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:
CCATCGGAGAGGTCTTCCGAG
R:
TCATGCGGTTCTTGGCAGTTT
Band lengths:
345-1099
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