HsaEX6017583 @ hg19
Exon Skipping
Gene
ENSG00000118997 | DNAH7
Description
dynein, axonemal, heavy chain 7 [Source:HGNC Symbol;Acc:18661]
Coordinates
chr2:196723198-196729745:-
Coord C1 exon
chr2:196728873-196729745
Coord A exon
chr2:196726441-196726670
Coord C2 exon
chr2:196723198-196723528
Length
230 bp
Sequences
Splice sites
3' ss Seq
AGCATTTATCTTACATTTAGTCA
3' ss Score
3.5
5' ss Seq
AAGGTAAAA
5' ss Score
8.38
Exon sequences
Seq C1 exon
ATGCTCTCCTAGTAGGGGTTGGAGGGAGTGGAAGGCAGTCTGTCACCAGATTAGCTGCCCACATGGCTGATTATTCAGTTTTCCAAGTTGAAATCTCTAAGGGGTATGATACTACTGAATGGCATGAAGATTTAAAAGTGATCTTAAGGAAATGTGCGGAAGGTGAGATGCAGGGTGTCTTCCTGTTTACAGATACTCAAATTAAAGAAGAGTCTTTTCTGGAAGATGTCAGTAATCTGCTAAATGCTGGGGAGATTCCAAATCTCTTTGCATTAGATGAGAAGCAAGAGATATGTGATAAGATGCGTCAGTTAGATCGCCAGCGGGATAAAACCAAGCAAACAGATGGCAGCCCCATAGCCCTTTTCAACATGTTTATTGATCATTGCCGCAGCCAACTGCATGTGGTCCTTGCCATGAGTCCCATTGGAGATGCATTTCGGAATCGTCTTAGAAAGTTCCCTGCTCTTGTTAACTGCTGTACCATTGACTGGTTTCAG
Seq A exon
TCATGGCCTGAAGATGCACTCCAGGCAGTTGCCTCACGATTCTTGGAAGAAATTGAAATGTCAGAGGAAATACGAGATGGCTGTATCGACATGTGTAAAAGCTTCCACACTTCTACTATAGATTTATCCAAATCTTTCTTTGTTGAACTTCAAAGATACAATTATGTGACTCCTACCTCTTACCTCGAATTAATCTCCACCTTCAAACTGTTGTTAGAAAAGAAAAGAAG
Seq C2 exon
TGAAGTAATGAAAATGAAAAAGAGATATGAAGTGGGTTTGGAGAAACTGGATTCTGCTTCATCTCAAGTAGCCACAATGCAGATGGAGTTGGAGGCACTACATCCTCAATTAAAAGTTGCTAGCAAAGAGGTTGATGAAATGATGATAATGATTGAGAAAGAGTCTGTAGAAGTTGCCAAAACTGAAAAAATAGTGAAAGCTGATGAAACAATAGCGAATGAACAAGCTATGGCTTCCAAAGCCATCAAAGATGAGTGCGATGCTGACCTGGCAGGTGCCTTGCCAATATTAGAGTCAGCACTGGCCGCCCTTGATACTCTTACTGCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118997-'46-47,'46-46,47-47=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.024 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF134051=EF-hand_6=WD(100=10.0),PF127802=AAA_8=PU(73.2=68.4)
A:
PF127802=AAA_8=PD(26.1=92.2)
C2:
PF127772=MT=PU(29.3=92.8)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGCGTCAGTTAGATCGCCAG
R:
GCCTCCAACTCCATCTGCATT
Band lengths:
294-524
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)