Special

HsaINT0146177 @ hg38

Intron Retention

Gene
ENSG00000159307 | SCUBE1
Description
signal peptide, CUB domain and EGF like domain containing 1 [Source:HGNC Symbol;Acc:HGNC:13441]
Coordinates
chr22:43212425-43214251:-
Coord C1 exon
chr22:43214090-43214251
Coord A exon
chr22:43212593-43214089
Coord C2 exon
chr22:43212425-43212592
Length
1497 bp
Sequences
Splice sites
5' ss Seq
GAGGCAAGT
5' ss Score
3.32
3' ss Seq
CCATGACCTCTGACTTTCAGGCC
3' ss Score
7
Exon sequences
Seq C1 exon
TTGCCTGTGGGCCTGGCACCCACTTCGGTGGTGAGCTCGGCCAGTGTGTGTCATGTATGCCAGGAACATACCAGGACATGGAAGGCCAGCTCAGTTGCACACCGTGCCCCAGCAGCGACGGGCTTGGTCTGCCTGGTGCCCGCAACGTGTCGGAATGTGGAG
Seq A exon
GCAAGTGCGGGCCTAGAAGGAGAGGTGGGGGTGGGGGGTGGGCGGGGGCTCCTCCTGTCTCTGATGAGGCCCTCCTGTCGAAGGCCCAGGTGCCTGGTGTGGCCAGAGAGTGTGGTATTTTCTAAAGTTCCTTGTCGTTTCCAAAACCCTTCACGATGTCTGTGCAGTCATCACTTACAAAGTGCGTGACAGATCCCAAAGCGTCAGCAGTCCCGGCCTGCACTACAGTGCTGAGCGCTGCACTGCACTCGGTGTGCTCTCAGAATTGCATTGTGCCCTTTGGAAAGGACTTCACAGTGTGCAACTTACGGTTTCTAAGGGAGGTACATAAGTGCCTTATGGTGGACTAGACAGCTTACATTTTACGGAACATTCCATTACAACTGGAACACTTTGCAGAGAGTATCTTATACTTGAGCAAGAACTTTGCTCCACACAAAGAACTTTATTATGTGCCCCACAGACGGTTTAGAAAGCCCTTTTTCAATTTACCAAATGCAGTTAGGTTTGCAAAGAGCTTTTGCATTTACCTCCCTCTCCCCACTTAACTCCATCTGTGAAGCTAGCTCAGTCTCCCCATGAGCCTTTCTTCCCAGGCCACTGTGAGTTTCACCCAAGAGAATCCGCGGGGAAGGTTCTCAGCACCCTGAGAAGCACAGTGCCTGTGAGGGTGGGGGAGTGGGGTCCCAGGATACTGGAGACCTCCAGCTTTCTCCCGGTGATGGAAGGGCTCAGAGCCCAGCCCTGAGTCCGTCCAGGCTGCCGGCTGCTCTCTGGCCCACGCCCACTCCAGGAGTGTGGTCTCCACCCCTGGGGGAGTGGCCACTGGTAGGAGATTCCGTGTTTGGGTAGAAGCTGAGAATCCCAGGGTCTGGGCTGAGAGGGTGCTAAACCCGCCTCTCACTCAATGCCAGAATACTCTCTGCATCCTGAGTCTGCTGGAACGCAAGAACATTCTTTACTCGGAGCTGAAATTGGCTTTCCTGTGGTCCCCTCCCTTTGTCCCAGGGGTGCCCTTGAGTACCTCAGAAACCCTCCCCAGACCCGCCTCCCTCTGCTCTGGCCTGGCCCTGCTGGTAGACCAGGCAGCGTCACCCTGAAGCTGAGCAGGTGCTCCTTCTGCGGAGACCCCGGTGCAGCCTACCCCCCGGGGACAGCCCCTCTGAGACACGTGACCTGCCCCTCCACCTGTGGGTCCCCTTCCCAGCTCAGCAGCAAGGCCTCTTGCTCTTCAACCCCCAGGCCTTCTTGCTGGTGGGAGAAGGAGAGCCAGGCTTGACCAAGGCCGCACATGAACCGCTGGCATCATCCGGACCAGGGCCCAGCTTCCTGCACCCCGGCTGCTGCGTTTTCCCCACCCCGTCCCCACCCCAGGCCTCGGGTGCCCAGTACCTTTTCCAGGGCCGGGCAAGGGCCAAGAGCGGGGCCTGAGACCACCCACAGCCTCGGCCCTGCGGTGCCCTCCTGCCCGCCTGAGCCATGACCTCTGACTTTCAG
Seq C2 exon
GCCAGTGTTCTCCAGGCTTCTTCTCGGCCGATGGCTTCAAGCCCTGCCAGGCCTGCCCCGTGGGCACGTACCAGCCTGAGCCCGGGCGCACCGGCTGCTTCCCCTGTGGAGGGGGTTTGCTCACCAAACACGAAGGCACCACCTCCTTCCAGGACTGCGAGGCTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000159307:ENST00000360835:16
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

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

C1:
PF076998=GCC2_GCC3=WD(100=87.3)
A:
NA
C2:
PF076998=GCC2_GCC3=WD(100=84.2)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTGGCACCCACTTCGGT
R:
TTTAGCCTCGCAGTCCTGGAA
Band lengths:
318-1815
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