Special

HsaINT0039006 @ hg19

Intron Retention

Gene
ENSG00000134871 | COL4A2
Description
collagen, type IV, alpha 2 [Source:HGNC Symbol;Acc:2203]
Coordinates
chr13:111158762-111160568:+
Coord C1 exon
chr13:111158762-111158953
Coord A exon
chr13:111158954-111160281
Coord C2 exon
chr13:111160282-111160568
Length
1328 bp
Sequences
Splice sites
5' ss Seq
TGGGTAGGT
5' ss Score
6.86
3' ss Seq
CATGACCCCTCCTTCCACAGGGC
3' ss Score
11.32
Exon sequences
Seq C1 exon
GTGCACCAGGCCGTCCAGGGAGCCCGGGCCTGCCGGGTATGCCAGGCCGCAGCGTCAGCATCGGCTACCTCCTGGTGAAGCACAGCCAGACGGACCAGGAGCCCATGTGCCCAGTGGGCATGAACAAACTCTGGAGTGGATACAGCCTGCTGTACTTCGAGGGCCAGGAGAAGGCGCACAACCAGGACCTGG
Seq A exon
GTAGGTACCTCCCACCCGGCCCCCGTTGCCTGCTCAGGGCTGGCCCGGAAGTGGCCAAGATCAAAGGGCCACAGCGAGACTCCCAAACCCTCCACGGCTGGTAAGTTCCCCTGACGGAAGGGTCCATCTACATTCCTCGAGTGCAGAAAGATTAAAACGGCCTTTGAAGCAGAAGCCTTACAAAGCCCTTAAACCTCAGGACCTTAACACAGGGACCTGCCTTTTAACCTGGTATTGACTTCCGCAGGCTCCCATGTGACCCGTCTGACCCCCGACCCCTCTCCAGTGGAGACCACCAATTACTTCACCTCCTTCTTGTTTTTGACCCAAGTTCTGTAGACTTGGAGTCAGGCAGGGGCCATGAGGGGCTGGGGTTCATGTAAGACTCTCCCATACAGCCCCCCGAGGAAAATGGACCCATGGACACGTGTGCATGCTCTTATTTAAGGAAGCCTTTGAAAGGCATTAACGCGACTTCGAATACAGAAAATGCAATACACACAAATTACAAGTGGAGGTAGCTTAGTCTGAGGTCCTCTTTGAGGGGGTGACGGGAAGGGTCTCTGGGATACTGGCTGTGTTCTGCCTCCTCGGTGCAGGTTACATCAGGCGTTCTGCCCCCGGGAAGCATGTTGCTGGCTCATGGTGCCTTCACATTCCTGCCTGTGCGCCCCGCCTCCACAATGAGTTTCTAAAGAACAACGGGGCAAAGGCCGCCAAGGATAAGGGCCAAAAATAGATCTAGGAACAGGGCCAAGGAGGCAGCCTAGCACCGGGCATGTTTGCTAAAGGTGGCTGCACTTCTGGGTCTGAGCTTTTCAGCAATCCATGTGAAGAGGGAAACCTGCTTAGCTGCAGCATTCGTTGTGGCCAGGAGATAAAGGCTATCTTAGTCTCCAGAAGCAATAAAGCTACATGGAAGGGAGAAGGGCCAGGACTCCTTCTGGGGTGGCTCCTTGGGGTCAAAGAGCGACCCCTTGGAGGCCATCAGAGTTTTCTTGGGGCCAGTGCTGTTAAGACCCCACTAAGGTAAGGCTCACCCAAAATGCTATTCCATGAAGACGCCACTCCCTGGTGATCCAACTTGGCCCAGTATGTGTGAGAACTTGTAGAAGAACAGAGCTGTTCCAAAATGCCAGTGGAGTCTGATCAAAAAGAGAAAAAGAAAGAAATTGGGAAGCCTTAGCCTGGCCCTCCAGTAGGTGGCTAAACTCCACCAGGTGCCCTGGGGCGAGTCCGTGACACACAGCCTCCTGGGCCTGGCTGGGGCTGGCAGGTGCGTCTTCTAGCCACACTGCACTGTGATCTCATGACCCCTCCTTCCACAG
Seq C2 exon
GGCTGGCGGGCTCCTGCCTGGCGCGGTTCAGCACCATGCCCTTCCTGTACTGCAACCCTGGTGATGTCTGCTACTATGCCAGCCGGAACGACAAGTCCTACTGGCTCTCTACCACTGCGCCGCTGCCCATGATGCCCGTGGCCGAGGACGAGATCAAGCCCTACATCAGCCGCTGTTCTGTGTGTGAGGCCCCGGCCATCGCCATCGCGGTCCACAGTCAGGATGTCTCCATCCCACACTGCCCAGCTGGGTGGCGGAGTTTGTGGATCGGATATTCCTTCCTCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134871-COL4A2:NM_001846:46
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.292 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0139113=Collagen=PD(36.2=32.3),PF0141314=C4=PU(39.8=66.2)
A:
NA
C2:
PF0141314=C4=PD(59.3=66.7),PF0141314=C4=PU(26.1=31.2)


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:
CCCAGTGGGCATGAACAAACT
R:
TATCCGATCCACAAACTCCGC
Band lengths:
357-1685
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