Special

HsaEX0027787 @ hg19

Exon Skipping

Gene
Description
GEM interacting protein [Source:HGNC Symbol;Acc:24852]
Coordinates
chr19:19744612-19745738:-
Coord C1 exon
chr19:19745601-19745738
Coord A exon
chr19:19745316-19745512
Coord C2 exon
chr19:19744612-19744999
Length
197 bp
Sequences
Splice sites
3' ss Seq
GCCCTCCGTTCCACCCCCAGCTC
3' ss Score
9.9
5' ss Seq
CAGGTGTGC
5' ss Score
6.46
Exon sequences
Seq C1 exon
GGCATTTACCGGGTCAGCGGGTCCCGGGTCCGTGTGGAGCGGCTGTGCCAGGCTTTCGAGAATGGCCGAGCGTTGGTGGAGCTGTCGGGGAACTCGCCTCATGACGTCTCGAGTGTCCTCAAGCGATTTCTTCAGGAG
Seq A exon
CTCACCGAGCCCGTGATCCCCTTCCACCTCTACGACGCCTTCATCTCTCTGGCTAAGACCTTGCATGCAGACCCTGGGGACGACCCTGGGACCCCCAGCCCCAGCCCTGAGGTTATCCGCTCGCTGAAGACCCTCTTGGTACAGCTGCCTGACTCTAACTACAACACCCTGCGGCACCTGGTGGCCCATCTGTTCAG
Seq C2 exon
GGTGGCTGCACGATTTATGGAAAACAAGATGTCTGCCAACAACCTGGGCATTGTGTTTGGGCCGACACTGCTGCGGCCGCCGGACGGCCCGCGGGCAGCCAGCGCCATCCCTGTCACCTGCCTGCTGGACTCTGGGCATCAGGCCCAGCTTGTGGAGTTCCTCATCGTGCACTACGAGCAGATCTTTGGGATGGATGAGCTCCCCCAGGCCACTGAGCCCCCGCCCCAAGACTCCAGCCCAGCCCCTGGGCCCCTCACAACCAGCTCCCAACCGCCACCCCCGCACCTTGACCCAGACTCCCAGCCCCCAGTCCTAGCCTCAGACCCCGGCCCAGACCCCCAGCACCACAGTACCCTGGAGCAGCATCCCACGGCCACACCTACCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000089639_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show structural model
Features
Disorder rate (Iupred):
  C1=0.000 A=0.197 C2=0.621
Domain overlap (PFAM):

C1:
PF0062022=RhoGAP=FE(27.4=100)
A:
PF0062022=RhoGAP=FE(39.6=100)
C2:
PF0062022=RhoGAP=PD(20.1=25.4)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAACTCGCCTCATGACGTCTC
R:
CCATCCCAAAGATCTGCTCGT
Band lengths:
243-440
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development