Special

HsaINT0039005 @ hg38

Intron Retention

Gene
ENSG00000134871 | COL4A2
Description
collagen type IV alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2203]
Coordinates
chr13:110504148-110506606:+
Coord C1 exon
chr13:110504148-110504264
Coord A exon
chr13:110504265-110506414
Coord C2 exon
chr13:110506415-110506606
Length
2150 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
3' ss Seq
CTCTCTTTCTCGGGCTGCAGGTG
3' ss Score
9.26
Exon sequences
Seq C1 exon
GTTTCCGTGGGGCTCCAGGGAAAGCTGGGCCCCAAGGAAGAGGTGGTGTGTCTGCTGTTCCCGGCTTCCGGGGAGATGAAGGACCCATAGGCCACCAGGGGCCGATTGGCCAAGAAG
Seq A exon
GTGAGTGACAGTGGGGAAGGACCTTCCCAGGTCCTAGTGCTCTGGATCTGACTCACAGACTGTGGTCTGCAGGAAGGGGACACACGAGAGCCCAGAAAAGCCAGAAATGAGGCGCTGCCCCACCCTCCTGCTCCTAATCTGGGCGTAGCAGCTACACTCCTATGCCCAGCAGAACACCTGGCCCCGAGTCCTGGGACAGCCTCCCTCCTTTTCCTGGGACACCTGCGGTGCTGTGGAGTGGGCGGCAGGGATCAGTAGACTTCAAGGGTCAGGATTAGACAAGGAGCCAAAAGAAACCGACTATTAAAATGTACAAGAGCCGCACTGCGAAGCCCTGTCTTACTTTTTTTTCTTTTTTGGACAGAGTCTCGCTCTGTCTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAGCTTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTTAGCCTCCCAAGTAGTTGGGACTACAGGCATGTGCCCCCATACCCAGCTAACTTTTTTGTATTTGTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGAGCGATCCGCCAGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGTCACCGTGCCTGGTCGTCTTATTTTTTAAAATTATTTGCACATATACAGAATGAAATAGGCCAGGAATAACAGCTATTCATGAAAAAAAAAAACCTCAAAATTTGTCTTAATCAACCTGAGCTCAGTTTGAGCCAATGGTCTGAGCATTAAAATTAAAATTAAAATTAAACATAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACAAGGGCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCAGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCCTCAACCCAGGAGGTGGAGGTTGCAATGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAGAAAATTAAACATGGGTAGTACTATTGGTGTCCAAGTCAAAGGAAATAGCAGTCCCCTGCCCCTGGGGACAGATCCGCAGCCGGCAAATTATGGGTAGTGTGGGGTGCACCTGAAAACAAATGCCAGCAAATGGGAGCCCGCCCAGGGTAGGAGACAAGCTAGGGATGGTGGAGGGGAAGTGTCCTGGGAGAAAGGGCCATGACCATGGGTGTCCCTTGGAAGGGGAGGGGACAATGGGAGAAAGGGTCACTGGGGATAGCTGAGAAATATTCACAGAGCTGCTGTGCTGGAGGCAGATGAGCCACCCCCGTGTGCTCCTCGGGTAGGAGTTACAGGAGGCTGCACGCAGAAAGAACATTCTAACCCAGGCTGTGGTCAAGTGCGCAGTCAGCATGGCCTGCGATGAGCCATGTCTCCTGGAAGTGTCCAGCGGAGGGAGGCCACTGCTGGGGGTGGGGGCTGGCCTGCGATACTCCTCCGGACACTTCCAACGCCAGGCACGTTGGGCACATCCTGAGGGGCACATGCCTACCTATGGCTGACTGAGTCTTTTATGGAAAGGACCCCTCCTCTGTGCCCAGTGCCCTCACTGCCATCATTTCATGCTACTGAGAACAAAGTGTGGATCAAATCCTTCCCAAGAGTCTCCTGATCTCAACAGACTGAGCCCCAAGATCTGGGGAAGGAGAGCGATGGTTCTAGGCGCACCTGGAAACTGCCCTGCACTCCTGGGTCCCGAGGTTTCTGTGGGGCGGCTGTCAAGGGGGCTGCTCTCTCTCTCTTTCTCAGGCTGCAGGTGCACTAGGCCGTCCACTCTCTCTCTCTCTCAGGCTGCAGGTGCACCAGGCCGTCCACTCACTCTCTCTCTCGGGCTGCAGGTACACCAGGCCGTCCACTCTCTCTCTCTCTCTCTCTCTCGGGCTGCAGGTGCACCAGGCCGTCCACTCTCTCTCTCTCTCTCAGGCTGTAGGTGCACCAGGCCGTCCACTCTCTCTCTTTCTCGGGCTGCAGGTGCACCAGGCCGTCCACTCTCTCTCTTTCTCGGGCTGCAG
Seq C2 exon
GTGCACCAGGCCGTCCAGGGAGCCCGGGCCTGCCGGGTATGCCAGGCCGCAGCGTCAGCATCGGCTACCTCCTGGTGAAGCACAGCCAGACGGACCAGGAGCCCATGTGCCCAGTGGGCATGAACAAACTCTGGAGTGGATACAGCCTGCTGTACTTCGAGGGCCAGGAGAAGGCGCACAACCAGGACCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134871:ENST00000360467:45
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=0.489
Domain overlap (PFAM):

C1:
PF0139113=Collagen=PD(39.6=52.5),PF0139113=Collagen=PU(62.1=90.0)
A:
NA
C2:
PF0139113=Collagen=PD(36.2=32.3),PF0141314=C4=PU(39.8=66.2)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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