Special

HsaEX0050465 @ hg38

Exon Skipping

Gene
Description
proline rich transmembrane protein 1 [Source:HGNC Symbol;Acc:HGNC:13943]
Coordinates
chr6:32149537-32151899:-
Coord C1 exon
chr6:32151809-32151899
Coord A exon
chr6:32150368-32150906
Coord C2 exon
chr6:32149537-32149722
Length
539 bp
Sequences
Splice sites
3' ss Seq
CCTCCACTCACCTCCCCCAGGAC
3' ss Score
9.53
5' ss Seq
ACGGTGAGT
5' ss Score
11.45
Exon sequences
Seq C1 exon
CACCCAGACTCCAGCACCGGCCGAGGACCCCCACTCCGGCTGCAGGGACCCTGTCCCAGCGAGACCGCAGGCATGTCATCCGAAAAGTCAG
Seq A exon
GACTCCCAGACTCAGTCCCTCACACTTCTCCGCCGCCCTACAATGCCCCTCAGCCTCCAGCCGAACCCCCAGCCCCACCGCCACAGGCAGCCCCTTCCTCACACCATCACCACCACCACCACTACCATCAGTCTGGCACCGCCACCCTCCCGCGCTTAGGGGCAGGGGGCCTGGCCTCTTCCGCGGCCACCGCTCAGCGCGGTCCCTCCTCCTCTGCCACGCTGCCGAGGCCCCCCCACCACGCCCCTCCCGGCCCTGCTGCCGGGGCACCCCCACCCGGCTGCGCTACCTTGCCCCGCATGCCACCCGACCCTTACCTGCAGGAGACTCGCTTCGAGGGCCCACTTCCCCCGCCGCCGCCCGCTGCCGCCGCCCCGCCCCCGCCGGCGCCAGCCCAGACTGCCCAGGCCCCTGGCTTCGTGGTGCCCACGCACGCGGGGACTGTGGGCACGCTGCCGCTGGGGGGCTACGTAGCGCCCGGATACCCCCTGCAGCTGCAGCCTTGCACTGCTTACGTGCCGGTCTACCCGGTGGGCACG
Seq C2 exon
CCATATGCAGGCGGGACCCCGGGGGGAACAGGAGTGACCTCCACTCTCCCCCCGCCGCCCCAGGGCCCAGGGCTGGCCCTACTGGAGCCGAGGCGCCCGCCACACGACTACATGCCCATCGCGGTGCTGACCACCATCTGTTGCTTCTGGCCTACTGGCATCATTGCCATCTTCAAGGCCGTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204314_MULTIEX1-2/3=1-3
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=0.778 C2=0.403
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF045057=Dispanin=PU(54.4=79.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCCAGACTCCAGCACCG
R:
CGGCCTTGAAGATGGCAATGA
Band lengths:
271-810
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