Special

HsaEX0050461 @ hg38

Exon Skipping

Gene
Description
proline rich transmembrane protein 1 [Source:HGNC Symbol;Acc:HGNC:13943]
Coordinates
chr6:32148359-32150583:-
Coord C1 exon
chr6:32150368-32150583
Coord A exon
chr6:32149537-32149722
Coord C2 exon
chr6:32148359-32149398
Length
186 bp
Sequences
Splice sites
3' ss Seq
CCCCAAATTTCCTTCCACAGCCA
3' ss Score
8.24
5' ss Seq
CAGGTAGGG
5' ss Score
9.46
Exon sequences
Seq C1 exon
GAGACTCGCTTCGAGGGCCCACTTCCCCCGCCGCCGCCCGCTGCCGCCGCCCCGCCCCCGCCGGCGCCAGCCCAGACTGCCCAGGCCCCTGGCTTCGTGGTGCCCACGCACGCGGGGACTGTGGGCACGCTGCCGCTGGGGGGCTACGTAGCGCCCGGATACCCCCTGCAGCTGCAGCCTTGCACTGCTTACGTGCCGGTCTACCCGGTGGGCACG
Seq A exon
CCATATGCAGGCGGGACCCCGGGGGGAACAGGAGTGACCTCCACTCTCCCCCCGCCGCCCCAGGGCCCAGGGCTGGCCCTACTGGAGCCGAGGCGCCCGCCACACGACTACATGCCCATCGCGGTGCTGACCACCATCTGTTGCTTCTGGCCTACTGGCATCATTGCCATCTTCAAGGCCGTGCAG
Seq C2 exon
GTGCGCACGGCCTTGGCCCGCGGAGACATGGTGTCGGCCGAGATCGCTTCACGCGAGGCCCGGAACTTCTCCTTCATCTCCCTGGCCGTGGGCATCGCGGCCATGGTGCTCTGTACCATCCTCACCGTAGTCATCATCATCGCCGCGCAGCACCACGAGAACTACTGGGATCCCTAAAAACGCCCCTGGTCCGGCCCCACTCTGCGCCCCTCGATCTCCCAGGCTCTTTCTGCAGTCATACCGCGGACCCAATGGGCGCCCTGCACACCCGTTTCTGGGGCCGTCAGACTTGGATACATCGTAAACTCCGCCTCCACGGAACGTCTCGCCTTGCGAGCAAGCTCGGAATCCAGTTCCTCAGGAACCCCTCCAAAACCCACACCCCCAGGGACGCCGCTTTCCGGGATCCCGGCCAAACGCCGGACCCTCAGTCGCTCCAGGCCCCCTCACCCTCAAAGTGTAGCGCCCCCAACCGAGCAACCTCGGTTTGGTCCCTAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204314_MULTIEX1-3/3=2-C2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.680 A=0.403 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF045057=Dispanin=PU(54.4=79.0)
C2:
PF045057=Dispanin=PD(43.3=66.1)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
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:
CTACGTAGCGCCCGGATACC
R:
GGGCGTTTTTAGGGATCCCAG
Band lengths:
258-444
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