Special

HsaEX0030176 @ hg19

Exon Skipping

Gene
Description
hemicentin 1 [Source:HGNC Symbol;Acc:19194]
Coordinates
chr1:186122882-186140582:+
Coord C1 exon
chr1:186122882-186123119
Coord A exon
chr1:186135940-186136074
Coord C2 exon
chr1:186140469-186140582
Length
135 bp
Sequences
Splice sites
3' ss Seq
AATGATTCCCTCTGTTGCAGATA
3' ss Score
10.04
5' ss Seq
AAGGTATAA
5' ss Score
7.08
Exon sequences
Seq C1 exon
GATTACACAGAGGACTACATTCAAACAGGTCCTGGGCAGCTGTACGCCTACTCAACCCGGCTGTTCACCATTGATGGCATCAGCATCCCATACACATGGAACCACACCGTTTTCTATGATCAGGCACAGGGAAGAATGCCTTTCTTGGTTGAAACACTTCATGCATCCTCTGTGGAATCTGACTATAACCAGATAGAAGAGACACTGGGTTTTAAAATTCATGCTTCAATATCCAAAG
Seq A exon
ATATTGATGAGTGTGCTTTGGGTAGGCATACCTGCCACGCTGGTCAGGACTGTGACAATACGATTGGATCTTATCGCTGTGTGGTCCGTTGTGGAAGTGGCTTTCGAAGAACCTCTGATGGGCTGAGTTGTCAAG
Seq C2 exon
ATATTAATGAATGTCAAGAATCCAGCCCCTGTCACCAGCGCTGTTTCAATGCCATAGGAAGTTTCCATTGTGGATGTGAACCTGGGTATCAGCTCAAAGGCAGAAAATGCATGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341_MULTIEX1-3/3=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

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

C1:
PF074747=G2F=PD(26.1=61.2)
A:
PF0764510=EGF_CA=WD(100=95.7),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=94.9),PF0764510=EGF_CA=PU(0.1=0.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACATTCAAACAGGTCCTGGGC
R:
GTGACAGGGGCTGGATTCTTG
Band lengths:
257-392
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