HsaINT0039291 @ hg38
Intron Retention
Gene
ENSG00000204262 | COL5A2
Description
collagen type V alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2210]
Coordinates
chr2:189083984-189085213:-
Coord C1 exon
chr2:189085160-189085213
Coord A exon
chr2:189084038-189085159
Coord C2 exon
chr2:189083984-189084037
Length
1122 bp
Sequences
Splice sites
5' ss Seq
GATGTAAGC
5' ss Score
6.16
3' ss Seq
CTACATTTTTTTCCATAAAGGGT
3' ss Score
5.51
Exon sequences
Seq C1 exon
GGTCCGATTGGTTCACGTGGACCAGAGGGCCCTCCTGGTAAACCTGGGGAAGAT
Seq A exon
GTAAGCTACCTTTCCTCATTTTCCATTCAGGTTTTGAAGAGGCGAAGGGGTTAAAATGTTAACAAGAATGTTCTGTATTAATTTCCATTACATTTCCCCACCCTTTTAGCTTGCATTAAATTCAATGTAAACAGGAGCACTCAGAATGGAATTTTACAAATATCTAAAAGGGCTCTTAATTTGCGTAGTATTATGTTATTAGGTACTACTGTCTCTTCCTGAATTCCCTGGGTTTTTGTTAAGATTTCTCCATTAGATGCTAGGCTTGTTGTCACAGTAGCAACAACTTTTCCTAGTGGAACCACTGAAATTACCTGAAAGAAAAAATATGTTGCTCTGATGGCAATACATCATTATGAGGTCTTATTTAAAAGGAATTTTTAAAACGTGTTAGTAGTATAGTGCCAATATGGCTCCCCAATGATGAAAAAATGATTTCTTCAATTGGATTTTTAATTAAAGTTAAGACCCAACTCCAGATTTTAACATTAAGAACATGTAATCAGAGAACAGTGTGCAATAGCAGACTTACATTTCTAGATTCTTAGTTGTACCAAAGTTGAGGATCAAATTATGGGTAGGCCATTAATTTCTATATGATACTAAACCAAGTATTAATAAATATTTTCTCTTTATGAGTCATAAGATTTATTTAAACAGGTTACATTGAATTTGGACATAGAGCACATATTTCTGATAGTCTTTTCTTTTTAACCACAGGAAAGAAATGGAAAGTAGTATTTTAAGAAGCAATACTTTAATTCAGTGTCATGTGATCATATAGAATTCTATAGTATATATCCTATAGCATACATGTATGTTTATGTGTATAAATTTTGATGTTCATAAAATAGTGAGCTACATCAGACCAAGAAAATTTTCAACAATTTATTCTTCTGGGTAAATTAATGAAAGCCACAGACTAACTTGATAGAATGGAGTACTATCAGGAATATAAGGAATAGAGCCTATTTTTACTTTATTTTTTGCACTGTTTAGAGAATTGTACATTAGCTTTCTAAAGAAGACTGTTTTATTAGTAATTTATTTATCATTTAGTTTCAGAGAAGAACCTTTTAATCACTTTTGCCTTCCCAATCTCCTACATTTTTTTCCATAAAG
Seq C2 exon
GGTGAACCTGGCAGAAATGGAAATCCTGGTGAAGTGGGATTTGCAGGATCTCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204262:ENST00000374866:11
Average complexity
IR
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(26.6=100),PF0139113=Collagen=PU(19.4=77.8)
A:
NA
C2:
PF0139113=Collagen=PD(7.8=27.8),PF0139113=Collagen=FE(23.6=100)
Main Inclusion Isoform:
NA
Other Inclusion 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:
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