HsaINT0049148 @ hg19
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein, axonemal, heavy chain 1 [Source:HGNC Symbol;Acc:2940]
Coordinates
chr3:52356425-52357896:+
Coord C1 exon
chr3:52356425-52356791
Coord A exon
chr3:52356792-52357823
Coord C2 exon
chr3:52357824-52357896
Length
1032 bp
Sequences
Splice sites
5' ss Seq
GGGGTGAGT
5' ss Score
7.93
3' ss Seq
GCTCCATGGTTTGGTTTCAGGAG
3' ss Score
6.96
Exon sequences
Seq C1 exon
GAGCTTCGGCTGGGGCATCTCCCTGAGAAGCAGCATGGAGCAGCCTAACAGTAAAGGCTATAGCCTGGGAAGGACCCCTCAGGGCCCAGAGTGCAGCAGTGCTCCTGCAGTCCAAGTGGGGACCCACAGGGGCCTAGAGTATAACCCGGGGAAGATTCTTCCAGGATCAGACTATGGGTTGGGAAATCCTCCAGCCCTTGACCCCAAGCTCCCACATTTACCCCTGCCCCCGGCCCCACCCACACTCTCAGACTTGGGGCAGCCACGGAAGTCACCCCTGACAGGCACTGATAAGAAGTACCCGCTGATGAAGCAGCGTGGGTTCTACTCCGACATCCTCAGCCCTGGAACCTTAGATCAACTTGGG
Seq A exon
GTGAGTATGGCAGCCATCCCCTACCAAGCCTCAACCCTTCCTCTGGGCTCCGTTCACCCATCCTTTCATCCTTCTCCCCATCAGTCAGTCCATCTGTTCATTTAGCTGTCTATCGATCTATCCATCTGTCTTTCTATCCATCTACCCCCTATTATCCCCTCATCCATCCTTCCATCCATTTTTCTCACCACCCATGCATCTGTCCATTCATTCGACAACTCATTACTGAGCTCCTGCTGTGTGCCAGGCCCTGGATGGAGCCCTGGAGATGCAGCAGGGATGAGACGCCCACGTCCCTATTGTCATTGTTGTGGGGCAGTGGCTTTGGTAGGGAAGACCCCTTCCCCTGGCTCTGGTTGGGAAGGTTCCACAGATGAGGTGATGTACTGCTGAGATCTAAGAGACAGGATGTAAGAGTGGGGCCTGGGAGCATGTTCCAGGCAGGGGGAGACAACAGGTACAAAGACCTGGGGTCCCTGAGAGAGGGCACGGCTGTGTGAAGAAGAAGGCTAGAATGCGAGGGGAGAGATCGAGGGAGGAGGCTGGGGGCAGGGAAAAGAGAGGGGGGAATGACGAGGAGAGAATTCAGAGTCCTGTAGGTCCCAGGCAGCCTTAGGCTTTAGGCCAGGGAGGGGCCAAGAAAGACAGGGTGAGGACCACCTGATATGCATTAAACCTGCAGTGCCAGTGGCCCTTGGGAGAGGAGGTATGTACAGAGATACCTGCTGGCCTTGCAGTACCTGCTTCATGGCTCAGCCCCGGGATGCACTGTGGAGTGTTCTCAGATCAAGGAGGGGAGCTGGGCTGGACCAGAATGGGGTGGGGCCAGGAAGTCCTGGGTAGCCACAGCTTGTTGCCCACTGTGGCCTTTGAACGGGGAATTGTGCATACTCACTGGTTCTGCCCACTCCTGTGCTCCTGGAGTGCTCCCTGGTGGGTCTCAAGGGAGGCGCCTGGGCTCGGGGTCCCTCCCGGGTCCTGCCTGTCCCTGGGAGGTTGACACATACTCAGGGCTCCATGGTTTGGTTTCAG
Seq C2 exon
GAGGTATGTCGTGGCCCCCGAATGAGCCAGAACCTCCTGCGGCAGGCTGACCTTGACAAGTTCACCCCAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841-DNAH1:NM_015512:2
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.838 A=NA C2=0.520
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTATAGCCTGGGAAGGACCC
R:
GCAGGAGGTTCTGGCTCATTC
Band lengths:
351-1383
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)