Special

HsaINT0039212 @ hg19

Intron Retention

Gene
ENSG00000197565 | COL4A6
Description
collagen, type IV, alpha 6 [Source:HGNC Symbol;Acc:2208]
Coordinates
chrX:107407830-107408268:-
Coord C1 exon
chrX:107408107-107408268
Coord A exon
chrX:107407929-107408106
Coord C2 exon
chrX:107407830-107407928
Length
178 bp
Sequences
Splice sites
5' ss Seq
AAGGTACGG
5' ss Score
10.26
3' ss Seq
CTTCCTTTGGGCTTTGTCAGGCA
3' ss Score
5.74
Exon sequences
Seq C1 exon
GCCGCCCAGGCCCCGCTGGACCCCCAGGTCCCCCTGGGCCATCCTCGAATCAAGGCGACACCGGAGACCCTGGCTTCCCTGGAATTCCTGGACCTAAAGGGCCTAAGGGAGACCAAGGAATTCCAGGTTTTTCTGGCCTCCCTGGAGAGCTAGGACTGAAAG
Seq A exon
GTACGGCTGCTCGGCTGGCTGCTGGGCCCTTCCCCACTCCACGGCCAGGACTCCTTCCTGCAGTCCTGTGAAGAGAGGCCGGTGGCTGATGTTCTTCCCTACCTCACCCCTGCCTATCCTCCACCCCTACCACCCCTACCATGCCGGGACCTGACTTGCTTCCTTTGGGCTTTGTCAG
Seq C2 exon
GCATGAGAGGTGAGCCTGGCTTCATGGGGACTCCAGGCAAGGTTGGGCCACCTGGAGACCCAGGATTTCCCGGAATGAAGGGGAAGGCAGGGCCAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197565-COL4A6:NM_033641:39
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=NA C2=1.000
Domain overlap (PFAM):

C1:
PF0139113=Collagen=PD(71.0=80.0),PF0139113=Collagen=PU(23.8=27.3)
A:
NA
C2:
PF0139113=Collagen=FE(52.4=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TCCCCCTGGGCCATCCTC
R:
CCCTGCCTTCCCCTTCATTC
Band lengths:
226-404
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