HsaEX7005007 @ hg38
Exon Skipping
Gene
ENSG00000147434 | CHRNA6
Description
cholinergic receptor nicotinic alpha 6 subunit [Source:HGNC Symbol;Acc:HGNC:15963]
Coordinates
chr8:42752620-42757037:-
Coord C1 exon
chr8:42756928-42757037
Coord A exon
chr8:42755846-42756824
Coord C2 exon
chr8:42752620-42753310
Length
979 bp
Sequences
Splice sites
3' ss Seq
GTGTCTGACTTGCTTTGCAGTGC
3' ss Score
8.91
5' ss Seq
GAGGTAAAT
5' ss Score
8.39
Exon sequences
Seq C1 exon
ATCTGGAATGATTATAAATTGCGCTGGGATCCAATGGAATATGATGGCATTGAGACTCTTCGCGTTCCTGCAGATAAGATTTGGAAGCCCGACATTGTTCTCTATAACAA
Seq A exon
TGCTGTTGGTGACTTCCAAGTAGAAGGCAAAACAAAAGCTCTTCTTAAATACAATGGCATGATAACCTGGACTCCACCAGCTATTTTTAAGAGTTCCTGCCCTATGGATATCACCTTTTTCCCTTTTGATCATCAAAACTGTTCCCTAAAATTTGGTTCCTGGACGTATGACAAAGCTGAAATTGATCTTCTAATCATTGGATCAAAAGTGGATATGAATGATTTTTGGGAAAACAGTGAATGGGAAATCATTGATGCCTCTGGCTACAAACATGACATCAAATACAACTGTTGTGAAGAGATATACACAGATATAACCTATTCTTTCTACATTAGAAGATTGCCGATGTTTTACACGATTAATCTGATCATCCCTTGTCTCTTTATTTCATTTCTAACCGTGTTGGTCTTTTACCTTCCTTCGGACTGTGGTGAAAAAGTGACGCTTTGTATTTCAGTCCTGCTTTCTCTGACTGTGTTTTTGCTGGTCATCACAGAAACCATCCCATCCACATCTCTGGTGGTCCCACTGGTGGGTGAGTACCTGCTGTTCACCATGATCTTTGTCACACTGTCCATCGTGGTGACTGTGTTTGTGTTGAACATACACTACCGCACCCCAACCACGCACACAATGCCCAGGTGGGTGAAGACAGTTTTCCTGAAGCTGCTGCCCCAGGTCCTGCTGATGAGGTGGCCTCTGGACAAGACAAGGGGCACAGGCTCTGATGCAGTGCCCAGAGGCCTTGCCAGGAGGCCTGCCAAAGGCAAGCTTGCAAGCCATGGGGAACCCAGACATCTTAAAGAATGCTTCCATTGTCACAAATCAAATGAGCTTGCCACAAGCAAGAGAAGATTAAGTCATCAGCCATTACAGTGGGTGGTGGAAAATTCGGAGCACTCGCCTGAAGTTGAAGATGTGATTAACAGTGTTCAGTTCATAGCAGAAAACATGAAGAGCCACAATGAAACCAAGGAG
Seq C2 exon
GTAGAAGATGACTGGAAATACGTGGCCATGGTGGTGGACAGAGTATTTCTTTGGGTATTTATAATTGTCTGTGTATTTGGAACTGCAGGGCTATTTCTACAGCCACTACTTGGGAACACAGGAAAATCTTAAAATGTATTTTCTTTTATGTTCAGAAATTTACAGACACCATATTTGTTCTGCATTCCCTGCCACAAGGAAAGGAAAGCAAAGGCTTCCCACCCAAGTCCCCCATCTGCTAAAACTGATGGCTACATGGAAAAAGAGGACTTTCTTGCACATTAGGAAGCAGAATATCCTCCAGTGTAGCACAGGGGGAGAAGTGAGAAGTGTTATGACATTAGTGCCCTGATTGGGCAGCACCCACGGCTACAGTATCAGGTCAGGTTTCTCGTGTCTGTGTGTTTGGCTTCTAAAGACAAGAATGACTTACAATACAGCCTAATTATGTAATTAACATCAAGCCACACTAAAAAGTTCTGCTGTACCTCCAGTGGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147434-'9-10,'9-9,11-10=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=0.000 A=0.015 C2=0.000
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=FE(17.4=100)
A:
PF0293118=Neur_chan_LBD=PD(55.6=35.2),PF0293211=Neur_chan_memb=PU(86.1=62.4)
C2:
PF0293211=Neur_chan_memb=PD(13.1=70.5)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGAAGCCCGACATTGTTCTC
R:
CTCACTTCTCCCCCTGTGCTA
Band lengths:
356-1335
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains