Special

HsaINT0146234 @ hg38

Intron Retention

Gene
ENSG00000146197 | SCUBE3
Description
signal peptide, CUB domain and EGF like domain containing 3 [Source:HGNC Symbol;Acc:HGNC:13655]
Coordinates
chr6:35237902-35239874:+
Coord C1 exon
chr6:35237902-35238018
Coord A exon
chr6:35238019-35239751
Coord C2 exon
chr6:35239752-35239874
Length
1733 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
3' ss Seq
GTTTTGTCCTCCTTCTTCAGATA
3' ss Score
10.74
Exon sequences
Seq C1 exon
AGACCTGTGCTGTCAACAACGGGGGCTGTGACAGTAAGTGCCATGATGCAGCGACTGGTGTCCACTGCACCTGCCCTGTGGGCTTCATGCTGCAGCCAGACAGGAAGACGTGCAAAG
Seq A exon
GTAAGGACTTTGAGAGGACAGAAGCAGAGTGACCTTTGGTAAGGGGCTGAGGTTGGGACCAGAGATAGGGTGCCTATTAGGGGATGACACCTCCTCAACCTCCTTCTTATGAAGAACCCAGGACATAGCTAAGGGTTGTCTCCTATCTGCCTGTTTCATCTCAGTTCAAGGGACAGAGAAGTCCAGCCAGTTCCTTAGTGCCCCCTTCCCCTACCCCACCTTGTTTCCCTACTCTCATTCCTATCCCCCATGGGTCCCTAACCCTCTTAGTTAATGGACATGCGATTCACATTTGCTCCTGGGTCTGGAAGGATATTTGAGCCCTGACTGTGTGTGTGCATGAGGTCACAGGTGTGTTCCATAACCTTCTTACCCCACATTCCTCAGACCTTCCCAGTGGGCTCTGGGGAAATGATGTCTACCCCTCGAAAGGCTGTACTGGTCAAAGGGAGAGTAGGATACTAGTTAGGAGGACTGAAGCTGGGTTCAGATCCCAGCCCTGTCTCCTACTAGCTCTGTGATCCTGGACAAGTCACTTAATGTCTCTGTGCCTCAGTTTTCCATAGTGCTCGCCTCATACTGTGTTGTGATTAAAAGAGTGATTACATAAAAAGTACTTAGAACAGTGCTTGGCAAATGGAAACACTTTGTGTTAACTGTTATTACAGTATAGTTACCCACATTATGCATTCTGTTTCCCTTCCTTTTAATTAGCCAGGTCTGAGGGAGAATGGGGGGAAAGGGTGGAGGAAAAAGGCAGGGTAGCCATACTGAAAATGATGATTCATTAGGTCCATATCCCCTGGTCACAAGGAGTGGGGACGAGGAGGACTGGGCTCGTTCTTTGTGTCTTTTGGCCCAACAGCTGCGAGAGGAGGGGGGAGGCTAGGGCAGCAGGTCAGCCAGCCAGAGTTGAGAGGTTTCCTGCTGGGAAGAACTGTTGACAGGTATGCTAAGAGTGAAGTGAAAGGCTGCCCTCCCTGCCCCTTCCCCCAACCAGGGGTGAGTAGCCTGGGTCCTGTCTGCCACCAGCTTGGGGAACTTGACCTCAGGAAGGAAGCCATTCACCAGCCCCCCTTTCCCTTACTAGTGCTGAAAGCTGCCTCAGGCCTGAGTCTCTCCAGATCTCTCCCAGTCCAGCCCCTTGCCTGGCCCCCAGCCCTCCCCCATCAGCTACCCAGCCTCACTGGCTCTCCTGGAGGTCCTCCCTGCCTGGCCTCTTTCCCAGCTCCTCCTCCTCCCTAAAGGGCTGCCCGTTTTCAGTGAGTCCCTTTAGACCCTCCACCTCTCCTTGCCCCGCACCCCCCCAACCCCCCGTCCTGAGGGACAGGAAAGAGATAACCCTTACCCACCAACCTTTCAGGGAATGGCCATCAGCTGGAGACTAAGGGCTAGCCTGTTAGGTCAAATGCCCACCTGCCCCTCCTCTAGGTAATTCCCTGAGGGCCTGTTCCTAGTTTTGGTTCCAATTTGTCCCCTTATAAGAACACTCAATCCCAGAAGAGAGGGTGTTACTAATGGCCACAGATCCCCTGAACAGGGAAGAAACAGAGACAGGAAAGAGAGAGAGAGACAGGAAAGAGAAAGAGAAAGAGACAGAGAGAGATCAAGAAGAGGCAGGCCCAGGACTCCTTGATTTTTGCATGTCTCTGTCAGTGAGGGAGGGATCTTTCTCCTTGTTTGTTCTCAGCCTTTGATAGTATCTTTTATCCTGTTTTGTCCTCCTTCTTCAG
Seq C2 exon
ATATAGATGAGTGCCGCTTAAACAACGGGGGCTGTGACCATATTTGCCGCAACACAGTGGGCAGCTTCGAATGCAGTTGCAAGAAAGGCTATAAGCTTCTCATCAATGAGAGGAACTGCCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000146197:ENST00000274938:7
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=90.0)
A:
NA
C2:
PF146701=FXa_inhibition=WD(100=85.7),PF0764510=EGF_CA=PU(0.1=0.0)


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:
AGACCTGTGCTGTCAACAACG
R:
CCTGGCAGTTCCTCTCATTGA
Band lengths:
240-1973
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