Special

HsaINT0146190 @ hg19

Intron Retention

Gene
ENSG00000159307 | SCUBE1
Description
signal peptide, CUB domain, EGF-like 1 [Source:HGNC Symbol;Acc:13441]
Coordinates
chr22:43623380-43625194:-
Coord C1 exon
chr22:43625078-43625194
Coord A exon
chr22:43623503-43625077
Coord C2 exon
chr22:43623380-43623502
Length
1575 bp
Sequences
Splice sites
5' ss Seq
GAGGTCTGC
5' ss Score
3.9
3' ss Seq
TACGCCCGCTGTGCTTCCAGATG
3' ss Score
8.86
Exon sequences
Seq C1 exon
ACATCGACGAGTGCTCCTTCGAGCGGACCTGTGACCACATCTGCATCAACTCCCCGGGCAGCTTCCAGTGCCTGTGTCACCGCGGCTACATCCTCTACGGGACAACCCACTGCGGAG
Seq A exon
GTCTGCAGCCTGCCCGCCAGGGCCACCTCCCCCCCGAGGCACGCGCCTGGCCGCACGGCCACCTACACTGCACCCCGCATCCCAACCCTGCCCTCAACCCTGGGGGGCCTGAGGCCTCAGCAAGGATGGGGACTCCTGGGCAGAGGGGCTCAGCCAAGGACAAGTGAGGCAGGGCTGGGGAGACAAGGGGTAGCAGGGAACGGTTAGAGGTGGGTAGCAGGTCTCTGCCAGTGCCAGGCCTTGGCCAGATGGGCACGGGGCTGGAAACCCCATTTACTAGAGAACTCGGGCCAGGAGCGGGGGCACCAATACATGGAAATTCCAGACAGCTCGTTCCAGGGAGGCTCACAGCAGAGAGGGGCAGAGTAGAGGGGCAATTCGGGATCCTCAAGGGGGAGTGTTTGGCTGGGGGTAGGGAGGCACTCCAGAGGGATCCGCATGAGAAAGCAGTGGACAGAAGGACCGAGAGGCAGCCACAGGACTGGAGCCCACAGGAGGGAGCTCAGAGGAAGATGCGGATAGGGGGCGCCATCCCACCATGCAGGCTGCGTGAGCCCGCAGGGGAGTTGAGGGTTTATTCCCAGTCAGATGAGAAGCCTGTGGAGGGTTTAAGCAGGGGTGTGATATGGTCAAGTTCATGGAACTAGATGCCCCAGTGACCACATGGAAAGGAGAGTGGAATCCAGGGTACCACTGGGAAGACAGCTCCAGGCATGGGAGCATGCACTGCTGGAGCCGGGGCAGGGTGGGCAGCGACGGAACAAAGAGGAAGATTCTAGATGTATTTAGGAGTCAGAGCCAGGCTGCTGGGACTTGGTGTTATATGGGCATGGTGGGTGAAGATTAGGAAGCCAAGGACGGTCCCCCTCTCTCTTCCTTTTCTGTGACCTGGGGGTAGCCACACTCACGATGCCAGGCCACTTGAAGATCAGACAGGGTCAGGCAAGAATGTGATCAGGACATAGCTGGTGCTTGGGCTTCTGGAGGCGGGCTACAGATTCTTCTGGAAAGACTCTCGAAAACTTGGGCACCCCTTCCCTGGGCCTGCCGAGTGCAGGCAGCTCAAGAACTAACAGAATGTGGGGCCCAGCCCCTTCCCCCAGCTTCAGCGGGTGCTTTTGGTCAGAGGAGGAAAGGCCTTAGCGGTGACCTCTTTCACCCTGGTGTCTGTTGTACCACAGGGGACCCGGGGCTAGAAAAGGGCTTGTCCAGAGTCCCACGGTAAAATCAGTTTCACAATCCCTGGAGCAGTGCTCATTCCCTGCGCCACAAAACCTGGTTGGGTTGGAACTTTAATCGTGTGCTACCTCCTCTGCCCCCTAGCCTGGGGTGCAGCTGCTTGAGTTCAGAAAACCACCCAGGTTCCTGGGGGAAGGGACGCTGGGGTCTGTGAGGAGCCTTATAAACCCACGCGTGTGTGTGCGTGTGGCGTGTGCACTGCTCATCTGCATCCCGTGATGCTGTCCGACTCGGTGGGGTCAGGAGATTCTTGCCCTCTTGCCCTGGGTGGTCCCTTCCCCTGCCAGCCGCCAGCCGCCAGCCTCCCCTCTGCCCTTACGCCCGCTGTGCTTCCAG
Seq C2 exon
ATGTGGACGAGTGCAGCATGAGCAACGGGAGCTGTGACCAGGGCTGCGTCAACACCAAGGGCAGCTACGAGTGCGTCTGTCCCCCGGGGAGGCGGCTCCACTGGAACGGGAAGGATTGCGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000159307-SCUBE1:NM_173050:9
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.119 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0764510=EGF_CA=WD(100=95.0)
A:
NA
C2:
PF146701=FXa_inhibition=WD(100=85.7)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATCGACGAGTGCTCCTTCGAG
R:
CCACGCAATCCTTCCCGTTC
Band lengths:
238-1813
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