Special

HsaINT0146186 @ hg38

Intron Retention

Gene
ENSG00000159307 | SCUBE1
Description
signal peptide, CUB domain and EGF like domain containing 1 [Source:HGNC Symbol;Acc:HGNC:13441]
Coordinates
chr22:43258219-43262845:-
Coord C1 exon
chr22:43262720-43262845
Coord A exon
chr22:43258336-43262719
Coord C2 exon
chr22:43258219-43258335
Length
4384 bp
Sequences
Splice sites
5' ss Seq
CACGTAGGT
5' ss Score
6.85
3' ss Seq
TACACTTTGGGCCTAACTAGTAA
3' ss Score
2.38
Exon sequences
Seq C1 exon
AGGGTATGAACTGCATGAACAAAGACCATGGCTGTGCCCACATCTGCCGGGAGACGCCCAAAGGTGGGGTGGCCTGCGACTGCAGGCCCGGCTTTGACCTTGCCCAAAACCAGAAGGACTGCACAC
Seq A exon
GTAGGTAGAGGGAGACAAATGGGTCAAACGTCCCGTGCGTCTCCTGCCATTACTTTCTGGAGGGTCTGTCCAGTCTGCTGGACTTTGGCCAGGGAGGGTCCCCAGCCCCATGGGGTGGAGAGAAGGGCAGGGCCTGTGGAAGGGGCCTGATAGGGCATAAGGGACAAGGGTTGTAAACCCTAGCCTTGGGGTTTTCCGCACCAAGCACGACACCACCAGTGTAGCCCCAGGAGCTGGGCTGGATCTTATGGCAGCCCCTGAGCCTAAGCTGTCCAGCAGGAATGGTGGGGCCGTGGCACAGAGGTCTACAGGACCAGGTTTCTCGATGGGCCTGGGAAGCCCCTGGTAATGAGTAGTACAAAGAAGGAAAAGAGTATGGTTCTGAAGTGGTCCCATTCCGGGCTGTGCTGACCTTTTTTCCGGGACCAAAGATCAGAACTCTGCACACCTATAGTCCCAGCTTCTTGGGAGGCAGAAGCCAGAGGATCACTCTAGCCCGACTTTGAGTCCAGCTTGGACAATACAGCAAGACCCCATCTCTAAAATAAAATGTAAAGATCAGAACTCACAATTTGACCCCTGCAAGGCTAACTGCAGATGGTGATATTCTGGGAGATCTGGGCTGAATGAGGCCTCTGGCCAAAGACACCATTTCAGGATCTGCTTGGTGGTCTGCCTACGGGGCCCACGTGTAGTCCAGCCTCTTAATGGGGTCACCCCATTCCCCAGTAGGAGTAGGAGCCAGGAAACCAAGTAGAACGATGGCTGAACTCAGAAGCTTGGGAGCCAGTGCATCCTCCCCACAGCTACGTGGGGGAGATGGTGGGGTGGGCCTCTCCTCGTGGGAGATGAGGGCACCAGGGATACCCAAAGCGATGTCATATTTGCCCTTTTTACAAAGAGCCAAAGAAGACTGCTGGAAGCACTTTCCATCTCTGGCAAGAGACAAGTGCCTCATATCAAGCCCACATTCTAATGCAGAAAAATGCTAGGGAGAAGTGTCCAGTTCCAACTCCCAATAGAGAAGGTGGTCCTCACCCTAGCTGTGGAAATGAGAGACTGAGGCTGCCCCGCTGTCATAAAGAAAATGACCGTTCTTCCACCCATCTTTCTGTGGAGAGGACAGCTGGCCCTTGTTGGTCCATCATCCACAGTCACTGATCCTCTCAGTTGTCATCAGCTCTCCTGTGGGTGCCTTGCCATACCTTTCCCAACTCATGGTCTCCTAGAATAGTCACCAAGGCCCTGGGGACCCACGTGTACCAGATGTGATTCATCCATTCTTCAAAGTGAAGGTGCTTCCTTCTGTCCCAGGTATGGTCCAAGAGGCGGACCACCTTTCTCTGTGTTCCTGGCTCTTTCCTGTGGGGTGGCCAAGATAAGCCTGTATACTGTCACCCAGGGCAGGACCAAACGGGCAGTCTCGATTGGAAGTGCCAGCCTCCAGCCCCAGGGCTCCATCCAGGCCCCGTCTCCACACCAGATGGATTCCTTTAGCTGCAGAGAAGTCTTCTGCCCCCGGCCACCTCAGAACAGAAATGCTGACTCCAGCTTTCCCAGTCCCCCGTGTTGTGTGATCTGAGTTTCCTCACGAGAAAGGCCAAGGTCAAAAATGCATGGCGTCAGCAGGGTTGTGGATAGCCCTGGCCAGAAGGACAGTGCATTCTCTTAGGCAGAAGACAGGCCGAGGGCCTGCTCCAACTGGGCCTTGAGCCCAGTGCCAGGGAGAGGCTGCAGGTGGCCTGACTGTGGGCGGCTTGCTCCCTGACCCCATAGTACATCTGACACAAGCACTACAAGGAGGAGTTTGCTCAGAGAGCATCTTCTGAGCGCCAGCCTGGTGCGAGAGGTCAGGGACTAGGCAGGGCCCTGTGAGCAGCTAGGACACCCCCCACAACCCTCACCCCAGCTGCCCCCGCCAGGGAAGGGCTCAACCCTTGCCTGGAATATGTGCTGGCTTAAGAAACAGCAGTCCCACCCTCTCCGTGGGTGGCTGAATATCACCAAGGTATGGAGAGCCCGATGTGATTTCTGGGGCCTGAGGCCTCCCGTGAAGGGCCTGCACAGGCAGCTGCCCAGCGAGCCCAGCTTTGGCTGCTTCTGTGAGGTTAATGAGACAAGGTTGGTGAGAAGTTAGCTCTGAGGCATTCGCTCTAGTCCTTGAAGTCACTTGCATTCCAGGAAATTCCAGATCTCAAGCTGGGTTGGGGGCTGAGGCCTGGCTTAGCCAAGCAGCCTCTGTGGCTCAAGAGGACTGCAGGGCTCTGAACCAAGCTGTCATCCGTCCAGAGCCCAGGACCCACTCCAGGGCCGGAGCTAGAGGAGGTTTTCTCCATCCTTCTATCCGTCTCACCAGAGCTTGAGCTCAGACATCTCTGTGTACAAGCTGTAGACTCTCCGGTATTCGAAGGCTCGACCTTTGGGGGTCTGTGAGACGCACAAATGACTATGTGGAGGGAACAAGGGTCCCTGAGCCTGGATCCCCTTCGAGTTGCCTCAGGCAGGCCTCCATCCTCATTAGAGTCACTTTTGGGGCACAGCCTGTCTCCAGGAGCCTGGAGCTCAAGAAGAACTGCCTTCTCCCCAGCTGCACCCCTGCCCACTCTGAAACGGGAATCTCCTGGGTCCTAGAAAGACACACGACGTCCAGCCCAAAGTGGGTTCCACCTGGGTCTCTCCCCATCGCCTGAGATCTGCACAGAGCTGCAGCCTCCCGGAATCCCTGGCTTCCCTGGGTTCCTTCCTGGCCGTTGAGGTGAGCTGTTGAGAGATGAAAGCTGAGCTCTCATCCAGGGTGCCGGCTCCACCCTGGAGAAGAGTCACTCCTGAGGAGAAGAGGCTGGAGGGCTTTGTGCTTGAAGCCCAGTTGTGTTTCTGGAAGCATTTTTCAGGTCCCTGAAATTTCCCCCTAGAAGTCAGCTCCGTCCTCTGGATGGTCCTCAGCTCCCTGTGGAAGAGGGAGCAGCCTCTTAGAGCCTCTGGTTGCAGCGGACAGCATCTGAGGCACTGAGCAGACACCTGTCCCCATATCAAGCCATTTTCTTGACATCCTCCTCGCCCGCTGTGGAGACGGCATGTGTCCAAGGCTGAGGTGCCCCATCACTCAGGACAGGTGGGCAGGAAGGCTCTGCGTCGGTCTCTGTGAAAGGAAGAGTGCGGAGAAGTCAGTTCTGAAACATTTGAGATCCTTCTCTGGGAGTTGCCACCAGTTGACTTCCCTCTGGTACCAGCTGTGCTCAGGGGTCAACCGAATAGAACGTAATTCATTCAAATTCTCAGGATTTGGGATTTTTGCCCCTTCTAACCATAGTTGGTCTGAGATTTATTTTTGCATATTTGATCATTAGGGTTTTGCCAAATAAATTAGAGTGTAGCTTGAATTCTGGACAGATGGTTAAAGTATCCAAGAACACGCCCCATACTGAGGCCCTGGTGCACATTTGCGTTCGGATGATGGGCGTGCAGCTGTCTCGCCAGCATCAAAAGGCAGGGGCCCTGCACCCCCTGGGGAGCACTTGGGTCACCTTGCTCCCCTCTAGCGATCTCTCTCACCCTGGAAATGGACCATGTGTTTAAATAAACTTGAATTTGTAGTTTTTTCTACTTCAGACTCCTTTCTGTTCTGCCCCCTTTTCAGCCAACCCAGGTTGCTGATGTTGTGAAACATCCTGGGATTCTGGGCTGAAAGGCACCAGATCCTCCAGGCCACAGGCATCGAAAACAATGTAACGTGGTTATTATTTAGGTGATTTTCAAAACCGTACCTCAGATGACATTAACTTGCATGAGTCTGTCTGTTCGGACATTGCCGAGCTCCCGGAGGATTAGGGCTTTGAGGGGATAGAGTTTGAGGTGGCCCCTGGGACTCTGAGGGGGGACCTCCGTGGAGACATCCACACACCCCAAGACAGGCAGAGGAAGGAAAGCTCTGCCAGAACTAAGGAAATGAGGGTCACCTGGAACCACGGGCCGCCATGTCCCTCCCCCGACAGCTTGACAAGTATGTCCTGGCATTGGCAAACATTTGCCCCATCAAGACAGGCAGCTATAAAATGTCCTGCAGTCTGAGAAGGATGAAGCTGTCTTCATCTACCACCATCTGAGCGCATCACCTCTGTGCCTGCTCTGATCAAAGCCCAGACGACCCCAAGTCCATTCTGTCCCACCCCCGTTCAGCTCTAGGGAGTGAGTGACTCCAGGGTCCCTGGAGGGGCTGAAGTGCAGGGAAATGCTCCCCCGTTGCCCGGCGAGCCTCATGACCCTACCCACTGATGCCCTTAGGCCTCAGTTTCCCCATACCCTGAAGGCAGCCGCCAACACCGGCAAACTAACCGTTTTTGTTGTTCTGTTTATACACCCGTGTGTACACTTTGGGCCTAACTAG
Seq C2 exon
TAACCTGTAATTATGGAAACGGAGGCTGCCAGCACAGCTGTGAGGACACAGACACAGGCCCCACGTGTGGTTGCCACCAGAAGTACGCCCTCCACTCAGACGGTCGCACGTGCATCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000159307:ENST00000360835:5
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:
PF146701=FXa_inhibition=WD(100=86.0)
A:
NA
C2:
PF146701=FXa_inhibition=WD(100=90.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
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:
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