Special

HsaINT0146170 @ hg38

Intron Retention

Gene
ENSG00000159307 | SCUBE1
Description
signal peptide, CUB domain and EGF like domain containing 1 [Source:HGNC Symbol;Acc:HGNC:13441]
Coordinates
chr22:43339104-43343388:-
Coord C1 exon
chr22:43343174-43343388
Coord A exon
chr22:43339236-43343173
Coord C2 exon
chr22:43339104-43339235
Length
3938 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGC
5' ss Score
9.88
3' ss Seq
CCCCACACCCCTACCCACAGGGT
3' ss Score
7.39
Exon sequences
Seq C1 exon
GGCTGGGCGGCTCGGGAGCCCGAGCGGTGGCGGAGCGGCGAGCAGCGAGCAGCGCCTGCGGGAGCGGCCGGTCGGTCGGGTCCCCGCGCCCCGCACGCCCGCACGCCCAGCGGGGCCCGCATTGAGCATGGGCGCGGCGGCCGTGCGCTGGCACTTGTGCGTGCTGCTGGCCCTGGGCACACGCGGGCGGCTGGCCGGGGGCAGCGGGCTCCCAG
Seq A exon
GTAAGCCCCCGACCGAGGTGGGGGGCGGCGGGCGCGGGGGGCTCGGGCGGCCGAGGCGCGGTCCCGGAGGGCTTCTTCCCCGCGGATCCCGAGCTCGCCCCGCGCGGCCCCGCGCCCCCTGCCTCTTTGCAAAGTAACTTCTAGGGCCGGCCCGGGGCGCCCCCTCCCCGCAGCCCGGGCGGCCGGGGCTCCTGAGTCCGGCGGGGCCGCACCAGGGGTGGGTGGGCCGGGGCCCCGGGAGGGGAAGCGCGAGCGCGGGAGCGAGGAAGAAAGGCGGCGGTTCCCGGGGACCCCGCGTGCGGACCTGGGCGGGGCGGGACCCCGAGCGCAGAGGGGCGCTCCTCCTGGGAGAGGGGGCGCGGGGCGGGGCGGGCGGAGGGGGACACGCCAGGAGGTGGACGGGGAAAGGGACGGACCGAGAGACCGGGACGGGGCGGGAGGTGCGGGACAGACGGACAGAAGAGCCGGCGCCGAGGGAGCAGACAAAAGGAAGCCCGGAGAAAAGACAGATGCGGAAGGGTAGAGAGGAGGCCCGCACCGCCCGGGGAAGGAGGAGGAGGCCGGTGGATCAGGGGGAATCAAGAGGGATGGTCCCACCGATGATAAGGGAGAGAGAGAGGAGGAGACGGGGGACAGATGGACGCCGCAGAAAAACGGGGTTGGGGGGGGCGGTGAGAGGGAGACCGGGAAAGAGAGAGGGACAGAGATACCTGGAAAGCCGCAGACGAGGGACCGGGACCGTCTGACAGGACGGGGAGGAAAGACAGAGGGAAGGAAGGCAGAGGATCCGGAGGACAGACACAGGGAGGAGAGTCCGGACGCGGGACGTCGGTGGAGCAGACCCAGGAAGGGGAGGGGGAGACCCGGAGGCCACAGGCCCAGGCCCGTGGGTTTCACGGGGACCCCCCCACCCTCCCACCCGGTCCCCTCCTGCTCTCTGTCTTCAGGGGCTTCCCGAAAAGCTGGAGTCACATTCTCCCCTCCTCGTCATCAGAGGCGCTTCCTCCGGTGCTCTGCTTGGAGGGGGAGGCAGGGGGAGGGTCCTGCACGTCCTTCCCGGCTTCCTGAGGTCTGGTATGGGTGGCGTAGGGTCTATTCCTGGTGGTCCCGCGTGCCCCGAGTGAGGATGCTGGGCCTGTGAGACTCTTCCACAGCAACACCCCTCCTGGAAGCCCAGCCCTGCTGCCCCATCATCCCCCTTGTGTCTGTGGGTGTCTCTCCCAAGCTTTGGGGTCCCTCACCTCTGAGTGACTGTTCCTGGGCGTGCCTATCCCCACCTGTGTCCCTCCTCGTGTCTCTCTGTATCTGACTCTGTCTCCTCCACGACCCTCTCCGTGGAAGCCCTGTGACTGTGAAACCCCAGCAGCATGTCCCCAGCATAAGCAAACCAGAGTCAAAGGGAGCAGCCTGTGCTAGGAGGGCTGGGTCGCCCTGCAGGGGAGTCTCCAGCCCAGACAGGAGCGGGAGCATGGCAGAGAACCGATGGGGACAAGTGGCTTCTCCCTCTCTCTCCTCAAACTCCCATGTCCTCTCCCCACACTCCACACCAAGGACACCCAAGTGTTTAAAGGTGTGTTGGGAGATAGCTCCACCCACCCCTCATCAACATCCATCCATTTCCATTCCAGTGAAGACACCTGCCTAGGTGGGAGATTAGGGGTGAGGGCACAAGGGGCTCCCACCCCTCATTCCTACATACTGGCCCCTGGGAAGTGGGAAGAGCCATATCTGTGGCCCACTGCCCCTGCTGGTCCTGTCTCATAAGTGACCCCAGTCCTCCCAAACAGAAGCCTGGAGATGGGCCCTCTCTGGCCTCTGGGTCCCTGCCTTAGAGGCAGTGCCAGTCCTGCACAGTGTCCCTCTGTTGCCACTTCCCCAGAAGGCCCTCATGGATGTTCCTGCTGGCCCAGCCATCCAGTTGCCGGCTGGGCCCCCTCCAGTTCCTGCCTCCTTGTCCCCTTTCCACTCTTCCCCTGGGCAGCTGTCTAGGACAGGCCGCCCACCTGAGCAGATGGGTAGCCCCCCCCGGAAAGCAATGCCACCTGCCGTGTGTGTGCGCACACGTGCATGCATGTGTGTGTGTGTGTGTGTGCAGGGGGGTCATGCTGTTGTGTTTCTTGTTGATGCCTCTCTTCCTTCAGGGGTGGGCAGGAGACTTAGGGGCTAGGGCAAAGAAGGAGAAGCCCTGGGGGGCATGGATCTCATAGGCCCCACTGGCAGATTTCGAACCCAGATATTATCCAGGGGAGAAATTTAGAGTGGACACTCTTGGGGACCCAGCAATCTAAGGTGAGACCAGAGGCATGAAGAGATGGGGACATTCCAAGCTTACCCCTGGGGCACTGCCCTCATGGCAGCTGCTGAGAGTTCCTTGCACTGCTGCACTCCTGGGTCCTTCTGTCTGTCTGTCATGTCTACATTTCATGCATTGCTAGCTAGAAGTCACATGGCACATAGGAAAGCTCATTCTGTGTCAGAGTCCAGTCTCAGCCCCAGTGAGCTACTGACCCATAACAGATTTCACCTCACTGGGCCTCATTTCCTCATCTATAACCTGAGGAATCAACCTGGATTATAGGTACAGCTCTGACTGTGCTGAACTGTGCCCGACAAGAGGCACGTCCCCTCCCTGCCTGAACTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAAAAGAGACAAGGAGAGAGGCTTGGGGTGTATAGATGGAATGGATACACAGAATCTATTTTGCACAATTTGCCCCAACAGCTGTTCCAGACTGAAAGTGTATATGTGTTGGGGGCAGGAGGTAGAGAGTGTCGGGAGCCCTCAAAGCCTAGACTGAACTTGCATTTATAAGTTGGGACATGAAAACCAGGTTCACGTGTGGATTTCCGAGGAGGGAGGACCATGTGGGGAGTCAGAACCATGGATGGGCTCAGGTTAGCCCAGTTGAGGGTGTGGTTCTGCCACCAGACACTTTGGTGTGGGGGCGTGGAAGCCAGATGATGAATCCCGTGTTTCCACAGGCTAGGGGCAGGGTGGGATCCCACGTTCAGGTGACCTGCAGGAGCCTCCTGGCATGGCCTTGGTGTCCCCATCTGGAACCCAAAGGGACTAGATTTAAACTCCTCCAAGGACCCTTCTGGCTCTAAATTCTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTTGGGGGGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTTGGGGGGGTAGAATGAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGAGAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGAAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGATAGAGTGAGGAGAATGGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTAAGGAGAGTAGGGGATAGAGTGAGGAGAGTAGGGGAGGGCTGGAGTGATGCTTGTTGGGGGAGTAGGACAGACGGAGGAGGAGGTTCTTCCTCACTGTCTCCTTAAGCCTCAGTTTTCTCATCTTTTTAGCAGAACAATAGCTCAATGGGATGGTTGCGACAATAAATAAGGCCAAGCGTATTGATAGCATTGTCCCTGCCACAGAGTAGCTGCGCCAAAGATGCTACCAGTTGCCACTTGTCACACCAGATTGTCCTGTGACAGCTGTTATTGCCAATGAGCCCACCGATCAATGGACGGGCAAAGGCAAGAGCTCCCCCTGCCCTACACTATCGGCCACCTGCCCTGGGGCCACACCTTACCTCTTATTCCCCCCACACCCCTACCCACAG
Seq C2 exon
GGTCAGTCGACGTGGATGAGTGCTCAGAGGGCACAGATGACTGCCACATCGATGCCATCTGTCAGAACACGCCCAAGTCCTACAAATGCCTCTGCAAGCCAGGCTACAAGGGGGAAGGCAAGCAGTGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000159307:ENST00000360835:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion (1st CDS intron)

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

C1:
NO
A:
NA
C2:
PF129472=EGF_3=WD(100=80.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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