Special

HsaEX6063510 @ hg38

Exon Skipping

Gene
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130354763-130356257:+
Coord C1 exon
chr9:130354763-130355044
Coord A exon
chr9:130355746-130355854
Coord C2 exon
chr9:130356088-130356257
Length
109 bp
Sequences
Splice sites
3' ss Seq
GGAGTGTGTTCTGCCTGCAGTGC
3' ss Score
6.46
5' ss Seq
CCAGTGAGT
5' ss Score
8.28
Exon sequences
Seq C1 exon
TCCCACCTACCATCGAGGGCGCCGGTGGAAGACCATACGTGGTGAAGGCTGTGGCTGGGAGGCCTGTGGCGCTGGAGTGCGTGGCCAGAGGCCACCCGTCCCCCACCCTCTCCTGGCACCACGAGGGGCTGCCCGTGGCAGAGAGCAACGAGTCGCGGCTGGAGACAGACGGGAGTGTGCTGAGGCTGGAGAGCCCGGGGGAGGCATCCAGTGGCCTGTACAGCTGTGTGGCCAGCAGTCCTGCCGGGGAAGCCGTCCTGCAGTACTCCGTGGAGGTTCAGG
Seq A exon
TGCCCCCACAGCTCCTGGTGGCTGAAGGCTTGGGACAGGTGACCACCATCGTGGGACAGCCCCTGGAACTTCCCTGCCAGGCCTCAGGCTCCCCAGTACCCACTATCCA
Seq C2 exon
GTGGCTGCAGAATGGCCGCCCAGCCGAGGAGCTGGCTGGGGTGCAGGTGGCCTCGCAGGGGACCACACTGCACATTGACCATGTGGAGCTGGACCACTCAGGCCTCTTCGCCTGCCAGGCCACCAATGAGGCGGGCACTGCCGGGGCCGAGGTGGAGGTGTCTGTGCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357-'44-43,'44-42,45-43
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.295 A=0.027 C2=0.155
Domain overlap (PFAM):

C1:
PF0767911=I-set=WD(100=90.5)
A:
PF0767911=I-set=PU(34.9=81.1)
C2:
PF0767911=I-set=PD(64.0=94.8)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGTGGCCTGTACAGCTGTG
R:
CATGCACAGACACCTCCACC
Band lengths:
244-353
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains