HsaEX6020699 @ hg19
Exon Skipping
Gene
ENSG00000183914 | DNAH2
Description
dynein, axonemal, heavy chain 2 [Source:HGNC Symbol;Acc:2948]
Coordinates
chr17:7640385-7643256:+
Coord C1 exon
chr17:7640385-7640576
Coord A exon
chr17:7641281-7641438
Coord C2 exon
chr17:7643051-7643256
Length
158 bp
Sequences
Splice sites
3' ss Seq
TGTGGGGACTCCTTCTGCAGATG
3' ss Score
7.87
5' ss Seq
CCAGTATGA
5' ss Score
2.36
Exon sequences
Seq C1 exon
GATGGCTCTCGTCAAGCACAGTCAAACCTGACCTTTTTGTCAATCCTGAAGGAACCTTACCAGGAGTTGGCTTTCATGAAGCCCAAGGACATCTCTAGCAAGCTCCCTAAGCTGATCAGTCTCATCCGCATCATCTGGGTCAACTCTCCCCACTACAACACTCGGGAGAGACTGACCTCGCTCTTCCGAAAG
Seq A exon
ATGAGCAATGAGATCATCCGCTTATGCTGCCACGCCATCTCCCTGGACCGGATCTTTGAGGGATATGTCTCTTCCAGCAAGGAGGACCTGCAAGGCTGCATTCTCTGTTGTCACGCTTGGAAAGATCACTACGTACAGGCTGTGCAGATGCACATCCA
Seq C2 exon
GTATGTGACTGTCAGTATCACTTCGCCCGCTGGGAAGATGGCAAGCAGGGTCCCCTTCCTTGCTTCTTTGGTGCCCAGGGGCCACAGATAACACGGAACTTGCTGGAGATTGAGGACATCTTTCATAAAAATCTGCACACGCTGCGAGCCGTTCGCGGGGGTATCCTGGATGTCAAGAACACCTGTTGGCATGAAGACTACAATAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914-'6-8,'6-6,7-8=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF083857=DHC_N1=FE(13.0=100)
A:
PF083857=DHC_N1=FE(10.7=100)
C2:
PF083857=DHC_N1=PD(1.9=4.3),PF083857=DHC_N1=PU(18.8=89.9)
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTCATCCGCATCATCTGGGT
R:
TTGACATCCAGGATACCCCCG
Band lengths:
249-407
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)