Special

HsaINT0147495 @ hg19

Intron Retention

Gene
ENSG00000143434 | SEMA6C
Description
sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C [Source:HGNC Symbol;Acc:10740]
Coordinates
chr1:151104163-151106921:-
Coord C1 exon
chr1:151106877-151106921
Coord A exon
chr1:151105994-151106876
Coord C2 exon
chr1:151104163-151105993
Length
883 bp
Sequences
Splice sites
5' ss Seq
ATGGTGAGT
5' ss Score
10.13
3' ss Seq
TCCTCCCTCTCGGTCGGCAGGCG
3' ss Score
8.22
Exon sequences
Seq C1 exon
ATGGAGCTACTGGGAGTCAGTCTGGCCCTGGGGATTCTGCTTATG
Seq A exon
GTGAGTCCTCTTGTCCCAACCTCACCTTCCCTTGCTCAGCCCACATACCTGAGTGTGTGTCCTGTAGCAGCAGCAGAGCAGCATTCTGAATACCCTGGGAGTATCGGAAAAGGGTCGGCATCCTCCAGATACCCAGCATGTAGCTCAGTACTTGGCACACAGTAGGGTACTTTTTGAACAAATAAATCAATGTCCTGCATGATGAGCCCTTCCCCAGGCCCAGAAGAAACTAGAGGCTGGCGTTCTGGACTCCTGGGTTCCACAGGAGGGAGGAAGGACCCCTGGAAGGGTGTCAGGGGTAGAGATCAAGAGCCTCACTGGCTCTGACCTGGTCTCTGCCACCAGTGCTTCCGGGTCCTGGCCCTTCCCCTGGGACCCCCAGTCCTCCCAGTGATGCCCACCCCCGGCCCCAGTCTTCCACTCTTGGAGTTCACACTCGGGGTAAGGGGGCTACTTGGGAGAGATAGGAGTGAAGTGTGGGGCTGCTGATTCTCGGAGCGTTCTAAGCCCCTCACTGAATGGTGTTTGGTGCTCACTAACGCCTGTTTGGAGCCTCCCTTCCCCAGAATTGGGCATCCCAGCCCCGAGTTCTCCTGCACGAGCAGTTTTTGGCAGTTGCTCTTGGCATGGCTACAGGGGCCAGAAGTGGGATGGGGAATCCCCAGGCCCAAGCTCTGGCCTGAGTGTGAGGGGTAGTGCGTGGGCTGTATGCTGAGGAGTCAGGAGAGGTGAATCCTGAGGATGGTGGAGGCTGTAGGAGTGAGGCTGAGTAGCAGCGGGAGGGACGATGATGTCAGGCCTGGGAACTGCCGGCGCCTCTGGGCCTAGGTACCCCGCACCGCCTCCCCTTGGCTGAGCCTCCCTCCTCCCTCTCGGTCGGCAG
Seq C2 exon
GCGTGCGCCGGGACCTGCCCCCAGCCTCGGCCTCCCGCTCCGTCCCCATCCCACTCCTCCTGGCCAGTGTGGCCGCAGCTTTTGCCCTGGGCGCCTCAGTCTCTGGCCTCCTGGTCTCCTGTGCTTGTCGCCGCGCCCACCGACGTCGGGGCAAGGACATCGAGACTCCGGGGCTCCCGCGCCCTCTCTCCCTCCGCAGTTTGGCCCGGCTCCACGGTGGGGGCCCAGAGCCCCCGCCGCCCTCCAAGGACGGGGACGCGGTGCAGACGCCGCAGCTCTACACCACCTTCCTGCCGCCTCCGGAGGGCGTGCCCCCGCCGGAGCTGGCCTGCCTGCCCACCCCCGAGTCCACGCCGGAGCTGCCGGTCAAGCACCTCCGCGCCGCCGGGGACCCCTGGGAGTGGAACCAGAACAGGAACAACGCCAAGGAGGGTCCGGGCCGCTCACGGGGCGGGCACGCGGCGGGCGGGCCCGCGCCCCGCGTGCTGGTGAGGCCACCGCCGCCCGGCTGTCCCGGGCAGGCCGTGGAAGTCACCACCCTGGAGGAACTGCTGCGCTACCTGCACGGCCCGCAGCCGCCCAGAAAGGGGGCCGAGCCCCCCGCCCCTTTAACCTCGCGGGCGCTCCCGCCGGAGCCCGCCCCCGCCCTCTTGGGCGGCCCCAGCCCCAGGCCCCACGAGTGCGCCTCGCCGCTGAGGCTGGACGTGCCCCCCGAGGGCAGGTGCGCCTCTGCCCCCGCCCGGCCCGCGCTCTCCGCCCCCGCTCCCCGGCTGGGCGTCGGCGGAGGCCGGAGGTTGCCTTTCTCCGGCCACCGGGCCCCCCCTGCCCTGCTCACTCGAGTCCCCTCGGGAGGTCCCTCCAGGTACTCCGGGGGTCCCGGGAAGCACCTCCTGTACCTGGGCCGGCCCGAGGGCTACCGGGGCCGCGCCCTGAAAAGGGTGGACGTCGAGAAGCCCCAGTTGTCCCTGAAGCCTCCCCTCGTCGGGCCCTCCTCCCGCCAGGCCGTCCCGAACGGCGGCCGTTTCAACTTTTAAAGGGAGCGGCCCACGGCCTCCAGCGTGGGGAGCGCCCGAGTCCTCTCGGCCACGAGCTGGACGCTCTTCAGGACGTTTCACCGCCCCCTCGCCCCGCACCTCCAGCCTTCCCGACTCGCAGAGTCTCCCGAGGCCCCTTTTCGCCTCGGGTTTATTTATTGACTGTCTTTCCCCCTGTCCTCGACAGAAGAGTGGGAGGTGAGAAGCCCGTCTCCTCAGTGAGCCAGCATTTCAGGGGGAGCTGGCGGACTCCCACTCCCCGCTCCCTTCCAGCCAAGCTGCCTTAACTCGCCCCTCGGGGCTCCCCCAGAGACTGTGCCCCGGGCGGGCCGCGCGCGCTGTGTCCAGAGTCCTCGGGCCTTCTGGGTCTGGGACGTGCCTCTCCTACTGTGTAGGAGCCTCCGCTTCCCAATACAGCCGTGTCTGCAGCCACTGCCTGACTTCACTCGGGCGGGGGAGGGCGGCAGTCGGTCGGCTCGCTCTGGGCGCCCTCGCTCTCTGCCTTCATCTGGGCCCTGGGCTCTCCCGGGTAATGGGATGGCTGCGGTCCCGCCGGGGGGCAGTCTGGAAAGGTTTCCTAAAGGAGACGAGCGAATTAACGGTGTCGAGGTGAGCCAGGGCCAGGGGGACCCCGGTAAAGTTTAGTTGAGGCTGGGGAAGGCCCTCGGAGCTCGTTTCCAGATCGAGGTAAGAGGGACTTTCTTAAAGGCCTAGTCTATGGGATGGGGCGGCGGAGGGAATTTTTTGAGAAATAAAATGAAGCTGCAGTGTACGTTACTTGAAGTTCCACATCAGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143434-SEMA6C:NM_030913:18
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=NA C2=0.877
Domain overlap (PFAM):

C1:
PF0143720=PSI=PD(11.3=43.8)
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAGTCAGTCTGGCCCTGG
R:
GGAGGCGGCAGGAAGGTG
Band lengths:
334-1217
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development