Special

HsaEX6080595 @ hg19

Exon Skipping

Gene
ENSG00000147432 | CHRNB3
Description
cholinergic receptor, nicotinic, beta 3 (neuronal) [Source:HGNC Symbol;Acc:1963]
Coordinates
chr8:42585737-42592209:+
Coord C1 exon
chr8:42585737-42585846
Coord A exon
chr8:42586810-42587692
Coord C2 exon
chr8:42591627-42592209
Length
883 bp
Sequences
Splice sites
3' ss Seq
TGAAACTGCTTTGATTGCAGTGC
3' ss Score
5.18
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
GAATGGACAGACCACAAGTTACGCTGGAATCCTGATGATTATGGTGGGATCCATTCCATTAAAGTTCCATCAGAATCTCTGTGGCTTCCTGACATAGTTCTCTTTGAAAA
Seq A exon
TGCTGACGGCCGCTTCGAAGGCTCCCTGATGACCAAGGTCATCGTGAAATCAAACGGAACTGTTGTCTGGACCCCTCCCGCCAGCTACAAAAGCTCCTGCACCATGGACGTCACGTTTTTCCCGTTCGACCGACAGAACTGCTCCATGAAGTTTGGATCCTGGACTTATGATGGCACCATGGTTGACCTCATTTTGATCAATGAAAATGTCGACAGAAAAGACTTCTTCGATAACGGAGAATGGGAAATACTGAACGCAAAGGGGATGAAGGGGAACAGAAGGGACGGCGTGTACTCCTATCCCTTTATCACGTATTCCTTCGTCCTGAGACGCCTGCCTTTATTCTATACCCTCTTTCTCATCATCCCCTGCCTGGGGCTGTCTTTCCTAACAGTTCTTGTGTTCTATTTACCTTCGGATGAAGGAGAAAAACTTTCATTATCCACATCGGTCTTGGTTTCTCTGACAGTTTTCCTTTTAGTGATTGAAGAAATCATCCCATCGTCTTCCAAAGTCATTCCTCTCATTGGAGAGTACCTGCTGTTCATCATGATTTTTGTGACCCTGTCCATCATTGTTACCGTGTTTGTCATTAACGTTCACCACAGATCTTCTTCCACGTACCACCCCATGGCCCCCTGGGTTAAGAGGCTCTTTCTGCAGAAACTTCCAAAATTACTTTGCATGAAAGATCATGTGGATCGCTACTCATCCCCAGAGAAAGAGGAGAGTCAACCAGTAGTGAAAGGCAAAGTCCTCGAAAAAAAGAAACAGAAACAGCTTAGTGATGGAGAAAAAGTTCTAGTTGCTTTTTTGGAAAAAGCTGCTGATTCCATTAGATACATTTCGAGACATGTGAAGAAAGAACATTTTATCAGCCAG
Seq C2 exon
GTAGTACAAGACTGGAAATTTGTAGCTCAAGTTCTTGACCGAATCTTCCTGTGGCTCTTTCTGATAGTGTCAGTAACAGGCTCGGTTCTGATTTTTACCCCTGCTTTGAAGATGTGGCTACATAGTTACCATTAGGAATTTAAAAGACATAAGACTAAATTACACCTTAGACCTGACATCTGGCTATCACACAGACAGAATCCAAATGCATGTGCTTGTTCTACGAACCCCGAATGCGTTGTCTTTGTGGAAATGGAACATCTCCTCATGGGAGAAACTCTGGTAAATGTGCTCATTTGTGGTTGCCATGAGAGTGAGCTGCTTTTAAAGAAAGTGGAGCCTCCTCAGACCCCTGCCTTGGCTTTCCCAGACATTCAGGGAGGGATCATAGGTCCAGGCTTGAGCTCACATGTGGCCAGAGTGCACAAAAAGCTGTTGCTACTTGGTGGAGGAACACCTCCTAGAAGCAGCAGGCCTCGGTGGTGGGGGAGGGGGGATTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147432-'3-4,'3-3,4-4=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=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0293118=Neur_chan_LBD=FE(17.6=100)
A:
PF0293118=Neur_chan_LBD=PD(55.1=38.3),PF0293211=Neur_chan_memb=PU(84.1=59.0)
C2:
PF0293211=Neur_chan_memb=PD(15.0=68.9)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ACAGACCACAAGTTACGCTGG
R:
CACAAAGACAACGCATTCGGG
Band lengths:
353-1236
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains