HsaINT0035221 @ hg19
Intron Retention
Gene
ENSG00000170175 | CHRNB1
Description
cholinergic receptor, nicotinic, beta 1 (muscle) [Source:HGNC Symbol;Acc:1961]
Coordinates
chr17:7351898-7357839:+
Coord C1 exon
chr17:7351898-7352107
Coord A exon
chr17:7352108-7357615
Coord C2 exon
chr17:7357616-7357839
Length
5508 bp
Sequences
Splice sites
5' ss Seq
CAGGTAATG
5' ss Score
9.43
3' ss Seq
CTTCCCCTCTGCCCTCCAAGGAG
3' ss Score
7.37
Exon sequences
Seq C1 exon
AGAATGGCCAGTGGGAGATTATCCACAAGCCCTCTCGGCTAATCCAGCCTCCAGGCGATCCTAGGGGAGGGAGGGAAGGACAGCGCCAGGAAGTCATCTTCTACCTCATCATCCGCCGCAAGCCTCTCTTCTACCTGGTCAACGTCATTGCCCCATGCATCCTCATCACTCTTCTGGCCATCTTCGTCTTCTACCTGCCACCAGATGCAG
Seq A exon
GTAATGGGGGAAGGGGCTCCTTACTCTTTTGTCATTGGCTCAGCTTCTTACTCTTTATCCTTAATCCAGGCAGGGTTTTCCTGCCAATCCAAAGCATCATAGATTGGGCTTCAGCAATCCCGCCCAGGCTCTGCCTCCCGTTGACTGCCACCTTTCCTCCGCTCAGTGAAACTGGAACTCTTTCCTAATAGGAGTCCTAGCCTCTAATCCATAAAGCCTTTACTCCTCTGAACCACAAACCTCCAGGCTTAGATAGCTCTCCCATTCCCTTTCCCAACATTCCCTGCCCACTTTCAGACTCCCACTACTCCTTTAATTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGACTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGTCGTGAGCCACAGGGCCCGACCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTTTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTTGCTACAGCCTCAAACTCTTGGGCTCAAACAATCCTCCCACCTCAGCCTCCTGTGTAACTGAGACCACAAGCACCCACAATCATGCCCAGCTGATTTTTTTGTATTTTTGGTAGAGAAAGGGTTTCACCATGTTGCCCAGCCTGGTCTGCAACTCCTGAACTCAAGCGATCTGTTCGCCTCAGCCTCCCAACGTACTGGGCTTATAGGCATGAGCCACCGCGCTCGGCCCCCACTAGTCCTTTAACCTCCTATCTCCCTGGGAAATATATAATAGTAATAGCCACCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGATACTCTATGTCTACTAAAAACACAAAAAATTAGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGACATTGTGCCACTGAACTCCAGCCTGGGAGACAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAGTAATAGTCAACATATCTTTAGGAGGCAGCAAAATAGGATAACTTTTGGCAAATTCCTTAATCTTTTTTTTTTTTTCGAGACAGAGTTTTGCCCCGTTGCCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCTGCCTAATTTTTGTAGTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTATAGGCATCAGCCACCACACCTGGCCAAATTCCTTAATCCCTATGTGTCTCAGTTTCCTGATCTGGAAGTGGGCCAACCATTGTCCCTACCGCCTAGAATTATTTTGAGGATTGACAGAGTTAATAGAACTATGCCTGGCACCCAGTAAGTTCTATGTAAGCACTGGGTTTTGGGTTGTTTTTTGTTTTTCTTTTTTGAACACTTGCTATAAGGTAATTCATTTAACATGGTACATGTACTAATTCTAAACTTTACAACAATCCTGTGAGGTAAGTAACGAATTGTCATTCTCATTTTACAGTGGAGGATAAAGAGGCTGAAGGAGTTTAAGTCATTTGCCTGAAATCATTACACAGTTAGAGAGGGGCAGTGTTGCAATTCCAACCTGGGTCAGTGGCAGTCTGATTCAGAGACCTGATATCCTTAGCTCTGGTATTCAAAACATGCTTTCCTCCTCTCTGCCATCAAATCCTTTGTCTAAAGAAGGAAAGCAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCTGGTGGATCACCTGAGGTCAGGAGTACTCAAGAAACAGAAAGGAGGCCAGTAGAACTGAATGAAGTAAGCAGAGGGGAAAGCAGTAGGAGATGAAGTCAAGGAGCTCATGGGAAGGACCTATAGACCATAACCAGCTGCGTTTCAAAGGGACTCTAGACCCAGGAAGGCCCAGAACCACTGATGCTGAGTAACACCCTTGGCCTTCTGGTCTGAGTTGCTATGGCCTTGGGCATGCTAGAACAGGCAAGTGAGTTTCACTGGGGCATGTGTTGGGTGGATGTTTCAGGTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGGCTGGCATGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTCCCCGGTAGCCGGGATTACAGACATGAGCCACCATGCCTGAGTAATTTTTCTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTAAAATGATCCACCCGCCTTGGCCTCCCACAGTGCTGGGATTACAGGTGTAAGCCACCCCGCCCAGCCTGTTATGTTTTTTAACGTTGGTCTTTCGGCCACCAAGAGCCCAGGAAGGCCACATGCACAGCTCTGCCAGGTGCAGCCCAGGTGTCCAGGGCTCTCTGGTCCAGGACACCATGGCCTGGTGTGCCCTTATCTCCAGGCCTGAAGCCCCACCTGTCCAACCTGGAGACAGCTATGCAAGGTTCTCTTGCCAGGTGCTGTTTAATCTTGGGCCCTCCAGGGCCTGGAGCAGCTTCCAGGGCCCGTCCTCCATGCCCCCACCCAAGGACGTCCTCACTCCAGCAAGCTCAGCTACATGCTCAGCAGTCAGGGCCACTGAGGCCACAGCCCCGCCGCCACCCACACCAGGCTGTCCTAGAGGGCCACCCCAGCCCTGGAAGCCCCCTCAACCCCTGCTTTCATGCAGGAGAGGGGGAGCCACTGGAAGGTTCTGGAAAGAGGAATAATATGATCTGATTCTATTTCTTTCTTTCCTTTTTCTTTTTTTTTTTTTTTTTAGATACAGTCCCTGTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTCCAGTCACACACCACGATGCCCAGCTAAATTTTTTGTAATTTAAGTAGAGATGGGGTTTCGCTATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCATTGCCATGGAAACACCTGGGAGTTACCACCCCTTTGGCAATCACCTGATGACACAGAAGTTACTGCCCTTTCCCTAGAAATTTCTGCCTAATCCGTTGCTTAATCTGCATGCAATTAAACGTAGGTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCAGATCCCTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCCAAGTGTGGTGCCATGCACCTGTAATCCCAGCTGCTCGGGAGGCTAAGACAGGAGAACTGCTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCTGCAATCACGCCACTAAACTCCAGCCTGGGTGACAGAGTGAGAGTCTGTCTAAAAATAAATAAATACATAAGAGATAGGGAAGACTATCAGAGGAGTAGCTTTGGTAGTAAGATAATTTAGTTTTGGACATTTTGTTTTATTTTGTTTCTGCTTTTGTTTTTTGAGATGGAGTTTTGCTCTTGATGCCCAGGCTGGAGTGCAATGGCACGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCGCAAAGTGCTGGGATTACGGGTGTGAGCCACTGTACCCGGCTCAGTTTTGGACATGTTAAGCTTGAAATATTTATTAGACATCCAACTATCCAAGAGAGGTTGAGTAGGCAGATGGATATATATCTGGCATTCAGGGGAGAAGTCCAGGGTGGACATACAAATGTAGGAATGATTTACATGCAGATGGCCCTTCCAAAAGCCTGTCTTTTTTTTTTTTTTTTTTTTTTTATGATGGAGTTTTGCTCTGTTGCTCAGGCTGGAAGGCAGTGGTGCCATCACAGCTCACTGCAGCCTCCATCTTCCACACTCAAGCAGTCCTCCCAACTCAGCCTCTCAAATAGTTGGGACCACAAGCATGCGCCATTGTGCCTGGCTAATTTTTTTTTTTTTCTTTTTGTAGAGGTTGGGCAAAGTGGCTCACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGTAACATGGTGAAATCCTGTCTCTACAAAAAGTACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAGTCCCAGCTACTCAGGAGGCCGAGGTGGGAAGACCACTTGAGCCTGGGAAGTGGAGGTTTCAATGAGCCATTATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCAGCCTCAAATTTGTTTTTGTAGAAAAGAGGTCTCCCTATGTTGCTCAGGCTGGTCTGAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCAAAGTGCCAGGACTACAGGTGTGAACCACTGTGCCTGGCTGTAGAAATCTGTCTTTGAATGGCCTGGAAACATGGTCACTGATTATGCCATAGAGCTTTCCTTCAGGCAAGTCTAATCCTTCTCTCTTCCCCTCTGCCCTCCAAG
Seq C2 exon
GAGAGAAGATGGGGCTCTCAATCTTTGCCCTGCTGACCCTTACTGTGTTCCTGCTGCTGCTGGCTGACAAAGTACCTGAGACCTCACTATCAGTACCCATTATTATCAAGTACCTCATGTTTACCATGGTCCTCGTCACCTTCTCAGTCATCCTTAGTGTCGTGGTTCTCAACCTGCACCACCGCTCACCCCACACCCACCAAATGCCCCTTTGGGTCCGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000170175-CHRNB1:NM_000747:7
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.085 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0293118=Neur_chan_LBD=PD(23.7=57.7),PF0293211=Neur_chan_memb=PU(91.7=31.0),PF0293211=Neur_chan_memb=PU(0.6=1.4)
A:
NA
C2:
PF0293118=Neur_chan_LBD=PD(2.4=5.3),PF0293211=Neur_chan_memb=FE(57.4=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development
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)