Special

HsaEX6094160 @ hg38

Exon Skipping

Gene
Description
GEM interacting protein [Source:HGNC Symbol;Acc:HGNC:24852]
Coordinates
chr19:19630471-19634703:-
Coord C1 exon
chr19:19634507-19634703
Coord A exon
chr19:19633803-19634190
Coord C2 exon
chr19:19630471-19630537
Length
388 bp
Sequences
Splice sites
3' ss Seq
TCTCTTCACACCATCCCCAGGGT
3' ss Score
8
5' ss Seq
GAGGTAAGA
5' ss Score
10.06
Exon sequences
Seq C1 exon
CTCACCGAGCCCGTGATCCCCTTCCACCTCTACGACGCCTTCATCTCTCTGGCTAAGACCTTGCATGCAGACCCTGGGGACGACCCTGGGACCCCCAGCCCCAGCCCTGAGGTTATCCGCTCGCTGAAGACCCTCTTGGTACAGCTGCCTGACTCTAACTACAACACCCTGCGGCACCTGGTGGCCCATCTGTTCAG
Seq A exon
GGTGGCTGCACGATTTATGGAAAACAAGATGTCTGCCAACAACCTGGGCATTGTGTTTGGGCCGACACTGCTGCGGCCGCCGGACGGCCCGCGGGCAGCCAGCGCCATCCCTGTCACCTGCCTGCTGGACTCTGGGCATCAGGCCCAGCTTGTGGAGTTCCTCATCGTGCACTACGAGCAGATCTTTGGGATGGATGAGCTCCCCCAGGCCACTGAGCCCCCGCCCCAAGACTCCAGCCCAGCCCCTGGGCCCCTCACAACCAGCTCCCAACCGCCACCCCCGCACCTTGACCCAGACTCCCAGCCCCCAGTCCTAGCCTCAGACCCCGGCCCAGACCCCCAGCACCACAGTACCCTGGAGCAGCATCCCACGGCCACACCTACCGAG
Seq C2 exon
ATTCCAACTCCACAGAGTGACCAGAGAGAGGACGTGGCTGAAGACACCAAAGATGGGGGAGGGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000089639-'36-40,'36-37,38-40
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.197 A=0.623 C2=1.000
Domain overlap (PFAM):

C1:
PF0062022=RhoGAP=FE(39.6=100)
A:
PF0062022=RhoGAP=PD(20.1=25.4)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCACCGAGCCCGTGATCC
R:
CTTCCCCTCCCCCATCTTTGG
Band lengths:
264-652
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains