HsaEX6056402 @ hg19
Exon Skipping
Gene
ENSG00000114841 | DNAH1
Description
dynein, axonemal, heavy chain 1 [Source:HGNC Symbol;Acc:2940]
Coordinates
chr3:52388859-52391751:+
Coord C1 exon
chr3:52388859-52389071
Coord A exon
chr3:52390630-52390794
Coord C2 exon
chr3:52391630-52391751
Length
165 bp
Sequences
Splice sites
3' ss Seq
CCTGCCCCTCCCCTCCCCAGGAG
3' ss Score
11.8
5' ss Seq
GAGGCAAGC
5' ss Score
2.09
Exon sequences
Seq C1 exon
GCACTGGACAAGATGGAGAAGGAGTGGTCGACCATCCTGTTCAATGTACTGCCCTACAAGGCGACAGACACCTACATCCTGAAGAGCCCGGACGAGGCCTCACAGCTGCTGGACGACCACATCGTCATGACCCAGAATATGTCATTTTCACCCTACAAGAAGCCCTTTGAGCAGCGCATCAACTCCTGGGAGAACAAACTGAAGCTGACCCAG
Seq A exon
GAGGTTCTGGAGGAGTGGCTGAACTGTCAGCGGTCCTGGCTCTACCTGGAGCCCATCTTTAGCTCTGAGGACATCAACCAGCAGCTGCCTGTGGAGAGCAAGCGCTACCAGACCATGGAGCGGATCTGGAAGAAGATCATGAAGAATGCCTACGAGAACCGGGAG
Seq C2 exon
GTGATCAATGTGTGTTCCGACCTGAGAATGCTGGACAGCCTGCGGGACTGCAACAAGATTCTGGACCTGGTGCAGAAGGGCCTCAGCGAGTATCTGGAGACCAAGAGGAGCGCCTTCCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841-'25-27,'25-26,27-27=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF083938=DHC_N2=FE(17.0=100)
A:
PF083938=DHC_N2=FE(13.1=100)
C2:
PF083938=DHC_N2=FE(9.7=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTACATCCTGAAGAGCCCGGA
R:
TCTCCAGATACTCGCTGAGGC
Band lengths:
242-407
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)