Special

HsaINT0039660 @ hg19

Intron Retention

Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48622469-48623052:-
Coord C1 exon
chr3:48622990-48623052
Coord A exon
chr3:48622550-48622989
Coord C2 exon
chr3:48622469-48622549
Length
440 bp
Sequences
Splice sites
5' ss Seq
AGGGTGAGT
5' ss Score
9.25
3' ss Seq
TGACCTCTTCACCTCCTCAGGGC
3' ss Score
9.45
Exon sequences
Seq C1 exon
GGCAGGACCGGTGCTCCCGGCCCCCAGGGGCCCCCTGGAAGTGCCACTGCCAAGGGCGAGAGG
Seq A exon
GTGAGTGTGGAGACCATCGAGGTTTCTCTGAGGCACTCCTCAAAGCTGTCTCGGGGTTTTTACAAGAGAGAAGGAAGAAGCAGAGTTAGAATCATCGGGAATTCCTAGAAGCCCAGCTGGAGGTTATAAACCACCACAGAGACTTTGGGGGACACTCTGAAATAGAAGGGCCAGTGGGGCCTCTAGCCCCGCTGCAGAGCCTGAGCAGCAGCTCCAAGTCCCAGAGGCAGGGAAGCCCTCTGCCTTGTCGCTGCCCTTGTGCCTGGAATTGGGCTCTGTGAAGCTCTGAGGGGCCATTTCTCTGCCTCACTGTTCCACCCCCAATAACACTTGGGGGTCAGTGGGGTAGGCGACCCCTTGTTGATGGGGTGAGGCCCCTCCAGCAAACCAGGGGCCTTGGGGGAGGGTCCCTTCCTGTCCTGACCTCTTCACCTCCTCAG
Seq C2 exon
GGCTTCCCTGGAGCAGATGGGCGTCCAGGCAGCCCTGGCCGCGCCGGGAATCCTGGGACCCCTGGAGCCCCTGGCCTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-COL7A1:NM_000094:31
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=FE(33.3=100),PF0139113=Collagen=PU(3.0=9.5)
A:
NA
C2:
PF0139113=Collagen=PD(18.3=40.7),PF0139113=Collagen=FE(39.4=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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