Special

HsaINT0146230 @ hg38

Intron Retention

Gene
ENSG00000146197 | SCUBE3
Description
signal peptide, CUB domain and EGF like domain containing 3 [Source:HGNC Symbol;Acc:HGNC:13655]
Coordinates
chr6:35228614-35231859:+
Coord C1 exon
chr6:35228614-35228739
Coord A exon
chr6:35228740-35231724
Coord C2 exon
chr6:35231725-35231859
Length
2985 bp
Sequences
Splice sites
5' ss Seq
TGGGTAAGC
5' ss Score
8.84
3' ss Seq
TGACTACCTATCCTGCACAGATG
3' ss Score
7.18
Exon sequences
Seq C1 exon
ACGTGGATGAGTGCGAGCGAGAGGATAATGCAGGTTGTGTGCATGACTGTGTCAACATCCCTGGCAATTACCGGTGTACCTGCTATGATGGATTCCACCTGGCACATGACGGACACAACTGTCTGG
Seq A exon
GTAAGCAAAGGAGAGGGGATTTGGTGGAGGGATGTCTTGTGGAGAAAGAGATCTTTTCAGCATTTCCTATTTCCCAGGGAAGGAGGAGAGAGTGATCAAGAAGAGCTACATTCACAAGAGAATAAGGTCAGCCTCCCCTTTGAGACTGGCCACTTAGGATGAAAAATCCTGCTGGATGAAAAACATTAGAGGAAAAGCTGCTACGAAATGCTCCTAGGGCAAGGGCCAGGAGATGGGAATAGTGGGTTTAGCCAGTGGTGAGGCATGGTAGGAAGCTGATTTGGCTCCACACAGATATCTTGGTTCTGCTGCTTACTAGCCTTGGGTCTTGGGCAAATCAGCCAATCTCTGGAAATCTCATCTTTCTCCTCTCTAAAATGGGGGTGGGACCAGGTGTGGTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGAGGGACTGCTAGAGCCCAGGAGTTCAAGACAGGCCTGGGCAACATAGTGAGACCCTGTTTCTACAAAAAATAATAATAATAAAAATTAGTCAGTCATGATGGTGCATACCTGTAGTCCCCAGCTACTTGGGAGCTCTTCCTTGGCTTGAGCCTAGGAAGTCGAGGCTGCAGTTAGCTGTGATTGTGTCACTGCGCTCCAGATCGAGCAATCTTATCTCAAAAAATAACAATAAAATAGAATGGGGTGGTAATAACCCACTTGAAGGCTGCTGTGCGGATCACCACAAGACAACATATGAAAAGAGCCCTGTACAATCCTTAGCACATGGTAGGAGCTCAGTAATGGGAAGAATGTTTTTGATGATGACGACAGTGCATCCCTATGCCCCAGGAAGCCTCTGACCCTTACAGGCTTGTTTTCTCCCAGTTCTTCCTGCAATCTCCAGTCTCACCCTCTCCTCACTGATCTCCTTTGTCCCAGGAGCTGGATCAGAGATAAGAGAATCTCTAAGGAACTGAACTCAACTTTGGTCTCTGTCATTTTGGAAAATTACTGGGACCAAGTCAGACTCTTCCCCAAGCAGAAAATCTGAAGCTCATAGCAGAAAAGGATTTGAAATTTGAACCCAGGGCCTTCTCCCAAATTACTTCACCCTGTAGCCACAACAGAAAACAGGCACTAGAAGCATAAAGGACCAGGAAAGGAAGAGAAACAAAAGGAATGATGCCCAGAAAAGCAGGCTGGGCTGGTCCTCACCCACCAATTGACCAAATAGATGAATTCTCTTAAGTCCTATTGGCTGAGAAGAGCCTCCTTACTGCAGAGCTGCCTCCAAACCTAGTCATAACCCATCATTGGACCCAGGCTATAGGTTTCTACACCCAACCCTGGCCTCCAAACCCTGATATCTGCTGGGCCCTTAATCCCAGCCCTGGTCACCTCTCCTACCATTTTAGCTTCCAGGGAAGGGCCTCATATCTGCCCAGTCACCCTTGAGGGCCTCTTATGAAACTCCTTTGGGAAGGGAAGCTGTGGCACTTAGACCAGGACAGTGAGTTGCCTACAGGACATGCACATAAGCTTCTGAGTTCTTTGGCTGCCTTTGACTTTTCTAGGCCCCTGATTGTCACCACATCTCATTTCCCTATAAGTGTTTTGGGGAGAACCAACCAGAGGGACAAGAGAATGATTAGGTATAGAGAGGGTCAAGGGACAAAGATTACCTAGGGTTAGGGTTCAAAGTCTCAATACTACCTTTGGCTCTTAGGGGAATTTTGAGAAAGTTGTCCATGCTCTGGGCCTTAGCTTCCCCACTGAGAATTGGAGGAAAGAGCTTGGCTAGAGTAGCAAAGCCACAAGGTTAGATAGTAAGGGAGCAGACAGAAGGATGGCATGTAGAATGTGGCAAGAGCAGGAAGACAGGGATGGGGAGAAGTCAAGAGAACAGCAAAAGACAGGGTAGAGACAGGAGCAAAGCACAGGAAAGTACACCTTAGCTCTTCCAACAGGTGCATCTCTTGGGCAAGAGCCAGCTGGATCTGGGCCTCTCTGCCCTGGCCAGAAGGGGAAGAGAAGGTTGCAGGATCTCAGCAGAGAGGATGGGAAGAGAGGGGCAGATGAAGCCCTCAGGAGCCCAGATTCTAGCTGCTCCATTTGACAACCAATCTACGTGATGCCTCCTGGGCCAAGGCAAACTGAGAAGGGCCATGGACTTGGGAGGGCAGTAGCTAGCATAGAGATGGAATCAAGGTGTTGAATTGGGGGCTCCAGGGTGAGCTTGGCTCTAGAACCTAGGGGTGGTGATTTGGGGGTGAGAGCCTACTGTTCTCCCTGCCCCCCACCCCCACCATCTAGGGTGTGGCCTGGCAGCTCTCCCCAGATCCCTCCCCGCCAAGTTGTCAGACTTTGTTTTGTTAAGCCAAAATAGGAGAAAGGCTAGGGAATATGGCAGCAAGCCCAGGCACAGGGGGGAGGGGAGGAAGGACAGGGCTGTGGCCTGTCCACAGAAATGGTCCCTGCTCCACAAGGAGGTGAGGCTCAGCTGCCTTTCCCCACCCTGCCCCTCCAACCTCAGCACCATGGCCATAGCTCTGCCTGCACCCAGAGCCACTTCCCAGGTTCCTACATTCCCTGGCTGCTCATTGCAACCAGCTGCAACCCCCAGTTACCTATCCGACCAATGTGACCAATCTCCATCCTTACCTTCATCACTGTTCCTCTTTCTCTGGCTTCTTTCCTGGTGTCCTCTGTCTTCATACCCAGTTTACACAGGTGAGGGAAAGGGAGGCATGGCTTCACCTAGGTGACATTTGAGGTTCAAAGGTCCCCTTTTCCCCCACTTGCTTAGCTTCCCAGCTCTGCCCTCAGGGCAGCCTTTTTACACTTAGTGAAATATTAGCTGACAAGGGTGTGAGGACTTCCTGGCTTAAGGCTGGGCTTAGGGGGTAGTAGTTCTTAAGACTGCCTTTGGTGCTGAAGTCTTGGGATATACCCTGGACCCTGCCTGTACCCCATGACCCCACTGACTACCTATCCTGCACAG
Seq C2 exon
ATGTGGACGAGTGTGCCGAGGGCAACGGCGGCTGTCAGCAGAGCTGTGTCAACATGATGGGCAGCTATGAGTGCCACTGCCGGGAAGGCTTCTTCCTCAGCGACAACCAGCATACCTGTATCCAGCGGCCAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000146197:ENST00000274938:3
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=0.050
Domain overlap (PFAM):

C1:
PF146701=FXa_inhibition=WD(100=86.0)
A:
NA
C2:
PF126622=cEGF=PD(12.5=6.5),PF146701=FXa_inhibition=WD(100=78.3)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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

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