Special

HsaEX6066523 @ hg19

Exon Skipping

Gene
ENSG00000186452 | TMPRSS12
Description
transmembrane (C-terminal) protease, serine 12 [Source:HGNC Symbol;Acc:28779]
Coordinates
chr12:51252568-51281661:+
Coord C1 exon
chr12:51252568-51252836
Coord A exon
chr12:51279029-51279171
Coord C2 exon
chr12:51281045-51281661
Length
143 bp
Sequences
Splice sites
3' ss Seq
CTGGTATTTTTTGTTAACAGGTA
3' ss Score
8.76
5' ss Seq
AGGGTAAGA
5' ss Score
9.21
Exon sequences
Seq C1 exon
CGATCCTTTAATGTGGACAGCTGTGATTGGAACTAATAATATACATGGACGCTATCCTCATACCAAGAAGATAAAAATTAAAGCAATCATTATTCATCCAAACTTCATTTTGGAATCTTATGTAAATGATATTGCACTTTTTCACTTAAAAAAAGCAGTGAGGTATAATGACTATATTCAGCCTATTTGCCTACCTTTTGATGTTTTCCAAATCCTGGACGGAAACACAAAGTGTTTTATAAGTGGCTGGGGAAGAACAAAAGAAGAAG
Seq A exon
GTAACGCTACAAATATTTTACAAGATGCAGAAGTGCATTATATTTCTCGAGAGATGTGTAATTCTGAGAGGAGTTATGGGGGAATAATTCCTAACACTTCATTTTGTGCAGGTGATGAAGATGGAGCTTTTGATACTTGCAGG
Seq C2 exon
GGTGACAGTGGGGGACCATTAATGTGCTACTTACCAGAATATAAAAGATTTTTTGTAATGGGAATTACCAGTTACGGACATGGCTGTGGTCGAAGAGGTTTTCCTGGTGTCTATATTGGGCCATCCTTCTACCAAAAGTGGCTGACAGAGCATTTCTTCCATGCAAGCACTCAAGGCATACTTACTATAAATATTTTACGTGGCCAGATCCTCATAGCTTTATGTTTTGTCATCTTACTAGCAACAACATAAAGAAATTCTGAAGGCTTTCATATCTTTATTTTGCATTGTGTCCCTTTCTATGTTCTATATAATGAACATCATTTATTCTTCTAGCAATTAATTGCCTACATTAGAGATTTCATGTGAACATTTTATGGGCTATAAGTATTGTGACAGATATACAATTGTAATTTTGGCACTGAATCACATGTCTCCTTGAAATATCTTGATTATTTTATAATCATAATTCTGTATCTGGAATACTCATAGAGTTTGTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186452-'3-4,'3-3,4-4=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=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0008921=Trypsin=FE(38.1=100)
A:
PF0008921=Trypsin=FE(19.9=100)
C2:
PF0008921=Trypsin=PD(19.9=56.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTGGCTGGGGAAGAACAAAA
R:
AGCTATGAGGATCTGGCCACG
Band lengths:
247-390
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains