Special

HsaINT0147492 @ hg19

Intron Retention

Gene
ENSG00000143434 | SEMA6C
Description
sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C [Source:HGNC Symbol;Acc:10740]
Coordinates
chr1:151107274-151107785:-
Coord C1 exon
chr1:151107639-151107785
Coord A exon
chr1:151107352-151107638
Coord C2 exon
chr1:151107274-151107351
Length
287 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGA
5' ss Score
7.66
3' ss Seq
CACACCTCCGTTTTCCCTAGGAG
3' ss Score
10.61
Exon sequences
Seq C1 exon
GTGCAGTGGGAAGCGGACAGCCCAAACAGCACGACGGATCATAGGGCTGGAGCTGGACACTGAGGGTCACAGGCTTTTTGTGGCTTTTTCTGGCTGTATTGTCTACCTCCCTCTCAGCCGGTGTGCCCGGCATGGGGCCTGTCAGAG
Seq A exon
GTGAGAGGGGCCTGAGGCCAGGCCCTGTGTGGGCAAGCTCCCCGGGCCAGCAAGAGCACAGAAACACAGGTCTTTGGGGTGGCAGGAAAACACAGGGGATGGCTGTGGGGTGCCTAGGTACCTCAAGCATTCTGAAGGTGGGCAGCAACCAGGGTGTGGAGAGACTGAGGTGGACAGGAGAGAATGAGGCTGGGAGCCTCCTGTAAGCCAGGGTGGGAAAAGGCAGCAGAATGGAAAGTGACTGGAGTAGAAAGGGATCCAGCCTCACACACCTCCGTTTTCCCTAG
Seq C2 exon
GAGCTGTTTGGCTTCTCAGGACCCATACTGTGGATGGCATAGCTCCAGGGGCTGTGTGGATATCAGGGGATCTGGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143434-SEMA6C:NM_030913:15
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.060 A=NA C2=0.104
Domain overlap (PFAM):

C1:
PF0140314=Sema=PD(1.9=16.0),PF0143720=PSI=PU(14.5=18.0)
A:
NA
C2:
PF0143720=PSI=FE(41.9=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGCAGTGGGAAGCGGAC
R:
CCACCAGATCCCCTGATATCCA
Band lengths:
225-512
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