HsaINT0049193 @ hg38
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52389461-52391054:+
Coord C1 exon
chr3:52389461-52389586
Coord A exon
chr3:52389587-52390934
Coord C2 exon
chr3:52390935-52391054
Length
1348 bp
Sequences
Splice sites
5' ss Seq
CAGGTGCCC
5' ss Score
5.77
3' ss Seq
CAGTGCCTGGCTCTCCACAGATC
3' ss Score
8.86
Exon sequences
Seq C1 exon
GGCCAGTACCGCACGGTGCTCTACGACAGCTGGGTCAAGCAGCTCAGGAGCCACAATGTCCCACACACCTCCGAGCCCACGCTAATCGGGACGCTGGGGAACCCTGTGAAGATCCGATCGTGGCAG
Seq A exon
GTGCCCACCCCAGGGGCAGGAGTGCCCAGGCAGGGCCTGTGGTGTGGTCCAGGCTGGGCCAGGAGCCTTCTGCCTCCTTCCTACCCTGCTTTCCAGGGCCTGGCTCGGAGCTGCCTCTGCTGAACCCTCCTGTGCCCAGCAAGAGGGTGGTAGGAGGACAGGAGGAGAAAGCTGGGCTGAGTGTGGCACAGATGCTAGCTAAATGTGGGGAGAGGGATTAGGGGTACTTTTAAGAGTGTGATGGACCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTAGAGACCAGCTTGGCCAACATGGTGAAACCCCCTCTCTACTAAAACTACAAAAATTAGCCTGGTGTAGGGGCACACACCTGTAAGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGCTTGAACCCAGGAGGCGGGGGTTGCAGTGAGCAGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAGAGAAAAAAAAAGAGTGTTGGGTGGAGGTTGAGAAACAGTGTCCACAGTAGGGTTTAGAAGGGTTGTCTGGTCAGATGCAGTGTAATCCCAGCACTTTGGGAGGCCAAGGCAAGTGGATTGCTTGAGCCCAGAAGTTTGAGACTAGTCTGGGCAACATGGCAAAACCCCGTCTCTACTAAAAATTCAAAAATTAACCAGGCATGGTCGTGCATGCCTGTAGTCCCAGCTTCTCAGGAGGCTGAGATGGGAGGATCACCTGAACCCAGGAGGTGGAGGCTCCAGTGAGCCAAGATCATGCCATTGCCAAAAAAGAAAAGAAAAGAAAGCTTTCCTAAAGGAAGTATCTGAGTGAGACTCTGAAGGGCAGGGAGAGTTGGCAAAGAGAGGTAACCAAGAGGCCATAGGCAGAGGCCAGGCGTGGGCAGAGGCCAGGAGGGTCAGTGGGGTATGGGCTCTATGAAGATGGTCTCATCAAGTGAGCACTCAGTAGGCAAGAGGACAAAAAGGCACAGCGAAGGAGGGCCTTTCTGTCTGTGGGTTTCTCTGTCCATCTGGGGCCATCAGTGTCCTTGGGCCTGTGCTCTCTCAGGGGCTGTGCCATGGTTAGGTATCCAGCCCAGGAGCGAGGGAGAGGCGGGAGTCCTGGGGGTGAGGCATTGCCTACATTGTCACCTGCCCCCAACCTCCAAGGGGATGCAGTAAGGAGAGGGAAGTCCATAGCCGAAACACGAGGCCGGGAGATGCTGATGCCCTCAGTGACCCTGCTTGCAGGAAAGCTCTGACCCAGTCCAGTGCCTGGCTCTCCACAG
Seq C2 exon
ATCGCTGGCCTCCCCAACGACACACTGTCAGTGGAGAACGGGGTCATCAACCAGTTTTCCCAGCGCTGGACCCACTTCATTGACCCTCAGAGCCAGGCCAACAAATGGATCAAGAACATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841:ENST00000486752:59
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.071 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF127772=MT=PD(17.7=33.3),PF127812=AAA_9=PU(4.3=23.8)
A:
NA
C2:
PF127812=AAA_9=FE(17.0=100)
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:
CCGCACGGTGCTCTACGA
R:
CATGTTCTTGATCCATTTGTTGGCC
Band lengths:
238-1586
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