Special

HsaEX6001731 @ hg38

Exon Skipping

Gene
Description
coagulation factor II, thrombin [Source:HGNC Symbol;Acc:HGNC:3535]
Coordinates
chr11:46726498-46728163:+
Coord C1 exon
chr11:46726498-46726626
Coord A exon
chr11:46726711-46726837
Coord C2 exon
chr11:46727996-46728163
Length
127 bp
Sequences
Splice sites
3' ss Seq
CTGCTTGGCTTGCTCTGCAGACT
3' ss Score
8.1
5' ss Seq
TTGGTGTGT
5' ss Score
3.29
Exon sequences
Seq C1 exon
AGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGGCGTACCGCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAG
Seq A exon
ACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTG
Seq C2 exon
GCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCGCACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000180210-'14-14,'14-13,15-14=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.374 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF093965=Thrombin_light=PU(40.8=45.5)
A:
PF093965=Thrombin_light=PD(57.1=65.1),PF0008921=Trypsin=PU(14.3=30.2)
C2:
PF0008921=Trypsin=FE(22.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
(F2)
Zebrafish
(danRer10)
HIGH PSI
(f2)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGGAGGAGACAGGAGATGGG
R:
CGGTGAAGTTCTTGTCCCAGG
Band lengths:
243-370
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains