HsaINT0049178 @ hg19
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein, axonemal, heavy chain 1 [Source:HGNC Symbol;Acc:2940]
Coordinates
chr3:52412618-52414151:+
Coord C1 exon
chr3:52412618-52412796
Coord A exon
chr3:52412797-52413920
Coord C2 exon
chr3:52413921-52414151
Length
1124 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
3' ss Seq
CGATGCTGGGGCTACTGCAGGAC
3' ss Score
3.13
Exon sequences
Seq C1 exon
CTGGGGCCCCCCACATTGCCCACTTCACGGAGCCCCTTGTGGAAGCCACCATCATGGTGTATGCAACCATCACCTCCCAGCTGCTGCCCACTCCAGCCAAGTCCCACTACACCTTCAACCTGAGGGACCTCTCCAAGGTCTTCCAAGGCATGCTCATGGCTGACCCGGCCAAGGTCGAG
Seq A exon
GTGAGGACCAGGCAGGCACCCTCCCCAGTGCCCACACTGCTCTCCGCATCCTCCCCAGCCCCACCAATTTCAGGCCTTCCTGCCCAAACAGGCCCTGAGTGGGGCTTCCTGGAACATGGAGGTGCCAGGCCCTCCAGAGCCCAGCCTTGGTGCAGCTGAGCCCAGTCTTGTTAGTTGAACCCACACCTGGAATGGTGGCTGAGACGGGGATCACATGAGAGAGCCAGGGCAAGACGAGGGAGAAAGAGGGCTTCTGGTTTGGGCCCTGCATGTGAGAACGCTTGAGGGACAGTGAGCAGGGTGCCCTCTGGGAACCAAAAACCCCAGGTGGAAGGAGGGGGAAGTGTAGCAGGGAGCCAGGTGTCAGGGGCACTGGCAGGGGTGGGTCCAGGCACTAGGCACGGTGGGGGGCCAACATGGAGCTTAAATTTGTTCTGAGGGTGTAATGAGCCGTGTGGGTGGGCGGGGGACAGACCTGCACTTTGGAATGGGACTGAGCGGCCAGTGTGTGTGTAGCCCAGGCTAAGGAGATGGGGTGAGCAGGACAGAAGCTGACCCTGGCCTTGTAGCCACGCTTGTAGCCAACAAAGTCTACAGAAAAGGCTGGGAGCTTCCGGAGGGCAGTCCTGCCACCCAGGGAGATGCAGGGAAGCTGGGACAGAGGCGGCAGCTGAGATGGAGAGAGGGGGCAGGTTCAGAGGAGATTGGTGGGTCATGTCAGTGTGGCTTGGTGGGTGGTTAGATGTGGGGTGTTGGGAAAGTGTTAGGAGCATCAAGCATCCCTCCCAGGTTTGGGGTTAGGGGAGCGACAGGGGGCTAAAAGGTGGAAGTGAGGTGCTTGTGACAAGCTAGCAGAGCCAGACACCCAGAGGGCACTTGGCCAGCTGGACTCGGAGCTGAGGCATGAGGAGGCCCAGGCAGCACTGTGCAATCCACCCCATCCTCAGCCAGCCAGCAGTTGCACTTGCCAGCAGCCCCCACACACTGTCCCTGGGCCATGGTGGGAGAGCCAGGCTCCAGTCAGGGCCCCAGGAACTGGGGCCCACCCTCCCTTGCCTGGTGGTTTGAGAGATAGCTGAGGGCTTGGGGGCCAAGGACAGGCACCGATGCTGGGGCTACTGCAG
Seq C2 exon
GACCAAGTGCAGCTGCTGCGACTGTGGTATCACGAGAACTGCCGCGTGTTCCGGGACCGACTGGTGAATGAGGAGGACCGCAGCTGGTTCGACCAGCTCCTCAAGCGCTGCATGGAGCAGTGGGAGGTGACCTTCAACAAGGTCTGCCCCTTCCAGCCCATTCTTTACGGGGACTTCATGTCACCAGGCTCCGATGTCAAGTCCTACGAGCTCATCACCAGTGAGAGTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841-DNAH1:NM_015512:47
Average complexity
IR-S
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:
PF127752=AAA_7=FE(20.8=100)
A:
NA
C2:
PF127752=AAA_7=PD(3.9=14.3)
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:
CACATTGCCCACTTCACGGAG
R:
TGGTGACATGAAGTCCCCGTA
Band lengths:
354-1478
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)