HsaINT0049190 @ hg19
Intron Retention
Gene
ENSG00000114841 | DNAH1
Description
dynein, axonemal, heavy chain 1 [Source:HGNC Symbol;Acc:2940]
Coordinates
chr3:52422434-52422953:+
Coord C1 exon
chr3:52422434-52422625
Coord A exon
chr3:52422626-52422821
Coord C2 exon
chr3:52422822-52422953
Length
196 bp
Sequences
Splice sites
5' ss Seq
AAGGTGCGC
5' ss Score
9.05
3' ss Seq
CCACGGGGCTGCCCCTCCAGCTC
3' ss Score
5.19
Exon sequences
Seq C1 exon
CAAGCCCTGCTGGAGGCCCAGGATGACCTGGGGGTGACACAGAGGATCCTGGATGAGGCAAAACAGCGCCTTCGTGAGGTGGAGGACGGCATCGCCACAATGCAGGCTAAGTACCGGGAATGCATTACCAAGAAGGAGGAGCTGGAGCTGAAGTGTGAGCAGTGTGAGCAGCGGCTGGGCCGAGCTGGCAAG
Seq A exon
GTGCGCACCCTCCTCCTGCAAGGCCTGCAAGCGGGCCCGGCCCAGACAGGGGCCAGAAAGGACCAGGGCGCCGGTGGGTCCTGGGGTGGCTGTCCACACCCCCTCCCTGGCAACCCCAGGTGCCACAGTGGGTAGGGCCAGCCCCAGGCCCCTAGCCCAGCCTCCCAGAGCCCACCCCACGGGGCTGCCCCTCCAG
Seq C2 exon
CTCATCAACGGGCTGTCGGATGAGAAGGTGCGCTGGCAGGAGACGGTGGAGAACCTGCAGTACATGCTCAACAACATCTCCGGCGATGTCCTGGTGGCCGCTGGCTTTGTGGCCTACCTGGGCCCCTTCACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841-DNAH1:NM_015512:58
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.049 A=NA C2=0.048
Domain overlap (PFAM):
C1:
PF127772=MT=FE(17.9=100)
A:
NA
C2:
PF127772=MT=FE(12.3=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAGAGGATCCTGGATGAGGC
R:
CATCGCCGGAGATGTTGTTGA
Band lengths:
242-438
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)