Special

HsaINT0147472 @ hg38

Intron Retention

Gene
ENSG00000167680 | SEMA6B
Description
semaphorin 6B [Source:HGNC Symbol;Acc:HGNC:10739]
Coordinates
chr19:4546392-4548173:-
Coord C1 exon
chr19:4548027-4548173
Coord A exon
chr19:4546470-4548026
Coord C2 exon
chr19:4546392-4546469
Length
1557 bp
Sequences
Splice sites
5' ss Seq
GAAGTGAGT
5' ss Score
7.97
3' ss Seq
CGGTCCCTGGTCTGCTCTAGGAA
3' ss Score
8.99
Exon sequences
Seq C1 exon
GTGTGGACGGCCCGGCGGTGGCGAGACAGGGCAGCGGCTGCTGAGCTTGGAGCTGGACGCAGCTTCGGGGGGCCTGCTGGCTGCCTTCCCCCGCTGCGTGGTCCGAGTGCCTGTGGCTCGCTGCCAGCAGTACTCGGGGTGTATGAA
Seq A exon
GTGAGTGTCCACCCCAGGCCAGCCGTGGGCGGGAAGCAAGGGAGGATGGGCACAGGGAGGGACAGCTGGGTTCCAGTCAAAAGCCCAATGATGTCCTGGTCATTGAGCTGGGCAGAGGGCATGGCCCGTGCAAAGGCCCGCGGGCAGGACCACTCCTGGTGTGTTGGAAGAACAGCAAGGTGGCCGGTGTGGCTGGAGCACAGTGAGCAAGGGGGAGTGAGGGAGGAGGGGAGGACGGGGAGGGGATGGGAGAGGACGAGGCAGTTTGTGCAGAGCTTTGTGAGCCTCGGGGAGGACTTGGGCTTTGACCTTGAAGGAGATGGGAGCCATGTAGGGTTGCAGGCAGAGGAGGGACTGGCCCTGACTCAGGTGCTTACAGGTGCCCTCTGGTGGCTGCTGCCAGGAGGAGACTGCAGGGGAAGGAGAACCAGGGACCAGGGTGGAGGCTGTTTCCCCGTCTCTAAAATGGGAGGAAAGCTAGGATGCATGCCAGTGCTGGCACACGCCTGCACTCCATGTGAGCCGTCAATGCGGAGGACCCTGCTTCCTGCCCGCCGTTATTGCAACAATGACCCAGTAGCTCCGAGTCCAAGGGCACAGCCTCTGGCACGATGCCTGGGCTCCCATCTCAGCTCTGCCACTTGGGCAAACATTTACTTTCTGGAGCGTCAGTTTGCTTATCTGTAAAGTGGGGAGTGAACAGTGCCCTGCACACAGATTTGTTCTAAGGACTCCAGAAGTTGCTATTAAGAAGAGGGACTGGGCTTGGTAGCTCACGTCTGTCATCCCAGCACTTGGGAGGCCAAGGCAGGAGGACTCCTTGAGCCGAGGAGTTCGAGACCAGCCTGGGCAACACAGCATAGTGAGAGCCTGTCTCTAAAAAAAAAAAAAATGCAAAAATCAGCTGGGCGTGGTGGCACACACCTGTGGTCCCAGCTACCCAGAAAGCTGAGGCAGGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAACTATGATCATGACACTGTACTCCAGCCTGGGTGACAGAGCATGACCCTGTCTCTTAAAGAAAAAAAAAATTAAATTTTAATTTAAAAAAATTTTTTTAATTTTAAAATAAGAAAACGCCAGCCGTGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGTCCGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAACCTGGTGAAACCCTGTCTCTGATAAAAATGCAAAAATTAGCTAAGTATGGTGGCGCGTGCCTGTAATCCCAGCTACTCGGGGGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAACCAAAATCCCGCCACTGCACTCCAGCCTGGGCGACAAGAGCGAAATTCCATCTCAAAAATAACTAAATAAATAAACAACAAGAGCGAAATTCCGTCTCAAAAATTAATTAATTAAAATAAAAATAAAGAGGCAGGTGCTTGGAACAGGGCCCACAGGTCACCATCACCATTGGGGTTGTGTAAGTGACTTGGACACTTGTCCCATTCGGTCCCTGGTCTGCTCTAG
Seq C2 exon
GAACTGTATCGGCAGTCAGGACCCCTACTGCGGGTGGGCCCCCGACGGCTCCTGCATCTTCCTCAGCCCGGGCACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167680:ENST00000586582:14
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.120 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0140314=Sema=PD(0.1=0.0),PF0143720=PSI=PU(16.1=18.0)
A:
NA
C2:
PF0143720=PSI=FE(46.4=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGGCGAGACAGGGCAG
R:
GTGCCCGGGCTGAGGAAG
Band lengths:
206-1763
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