HsaEX6048214 @ hg38
Exon Skipping
Gene
ENSG00000111799 | COL12A1
Description
collagen type XII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2188]
Coordinates
chr6:75106419-75113313:-
Coord C1 exon
chr6:75113204-75113313
Coord A exon
chr6:75109018-75109167
Coord C2 exon
chr6:75106419-75106496
Length
150 bp
Sequences
Splice sites
3' ss Seq
GAAACAAATTATCTTTTTAGGTT
3' ss Score
7.86
5' ss Seq
GCAGTGAGT
5' ss Score
7.39
Exon sequences
Seq C1 exon
CTTCTAGCAAGACGTTATCATTCTTTAACAAGGATACAAGAGGCGAGGTGCAAACTGTTACATTTGACACAGAAGAAGTAAAGACATTATTTTATGGAAGTTTTCACAAG
Seq A exon
GTTCATATTGTAGTGACCTCAAAAAGTGTTAAGATTTACATTGACTGCTATGAAATTATAGAAAAAGACATCAAGGAAGCTGGAAATATAACAACTGATGGTTATGAAATTCTTGGAAAACTCCTTAAAGGGGAAAGGAAATCAGCCGCA
Seq C2 exon
TTCCAAATCCAGAGTTTTGACATTGTCTGCAGTCCAGTGTGGACCAGTAGAGACAGATGCTGTGATATTCCCTCTAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111799-'80-92,'80-89,82-92=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.045 A=0.000 C2=0.033
Domain overlap (PFAM):
C1:
PF079537=Toxin_R_bind_N=PU(35.4=94.6)
A:
PF079537=Toxin_R_bind_N=FE(49.5=100)
C2:
PF079537=Toxin_R_bind_N=PD(12.1=46.2)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCTAGCAAGACGTTATCATTCTT
R:
CCTAGAGGGAATATCACAGCATCTG
Band lengths:
188-338
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains