Special

HsaINT0039130 @ hg19

Intron Retention

Gene
ENSG00000188153 | COL4A5
Description
collagen, type IV, alpha 5 [Source:HGNC Symbol;Acc:2207]
Coordinates
chrX:107819140-107821217:+
Coord C1 exon
chrX:107819140-107819202
Coord A exon
chrX:107819203-107821181
Coord C2 exon
chrX:107821182-107821217
Length
1979 bp
Sequences
Splice sites
5' ss Seq
ATGGTAAGC
5' ss Score
9.26
3' ss Seq
CTTTTGTCTTCTCTTCTTAGGGC
3' ss Score
12.02
Exon sequences
Seq C1 exon
GGCCTACCTGGTCCCACTGGTATACCAGGGCCAATTGGTCCCCCAGGACCACCAGGTTTGATG
Seq A exon
GTAAGCTCTCTTCTTTAATTTAATTTCCCCCCCTTTCCTTTCTGACTTCTTTCAGGAATATTAATATTATTTATAATACTTGAAAACATAATGCATTCTCAACATTCATAATTTATAATTTTCTTATGTAAAGGTGACTTTACAATGATATGGTGAATAATATGCATTCTAAGTAATGGCTCCATTTTATAGATGGAAAAATGAGGTATATAAAAGGAAAGATTTACAATGAAATATTTTGTTGGTTGCTCTTGATGTATCAGTGTTGAAGTCAATTCTGGCCATTTCAGAAAGTCTTTTAAGGCAGTTTTCTAATCACTTGATGAAACATGTTTCTTCAAACTGCAATTGTTTGTTTAAGAAGAGCAAAAGCAGGGCTTCATAAAAAATATTGGCTCTCATTTCCTAGGCGCCTGGGACAAAACAGTAGAATTGGTGAGGGGAGTGATCACTATGCAATTGGTCACAGGTTTTTGTACCCCAAAAACTTCTACAGATCCTGAATGTGCAACCGGTTCTCTTACTTTACTAGCTCTGTAGTCACTCTTATTTTCTATCCTAGTAAATTCTAAGTATTTTTACTTCTGCAATACTTAGATTTCATTCAAGTCATGTTTTGGACTTACAGCTTTGCTGTTGCCCTCTTAAAAGGGCAAGAAAATTGTATTTCAGTAGAAGTAATTTCTCATGTGCCACTCTATCTCTCATCTACCATATATTTAAGTGACAGTTTTCATTATACCTTTATAGGTTGTACATTTTTGTTTGTGACAATTGGTCCTGCACTTTTGAGTGAAGGAAATAATGTTTGATAACTGCTAGAAGAATCTACCAGAAAAGATTGTGATTTCTGCTTTCCTGTAACTTTTTGGGGGAAGATGAGAAAACCCTTTTGTTTGTTTTAGTTGTAGACTTCATGCAAAGCATGAAACTATGGACTTTCGCACTTTTTCCTAATTCTGCTGTTGGAACATTGGTGCCCCTTGAGTATATTGTTACACCTTGAATTTCCTCAACCATTGTGGCCACTTAACCGATTCACTTTACGTTTCTGGATATTCCTTGAATTAACGCTAATTCAACAGGTGAAGCCAAATCTTAGAAATGCCACCAAGAGGCCAGGTGCTGTGGCTCATGCCTGTAATCCCGGCACTTTGGGAGGCTAAGGTGGGTGGATCACCTGAGGTTGGGAGTTTGAGATCAGCCTGACCAATATGGAGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGCATGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAAAATCGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCCGAGATCGTTCCATTGCACTCCAGCCTGGGCAACAAGAGGGAAACTCCTTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAATGCCACCAAGATACAATATATAAATAAATAGGCCCATTGAGGTTAAGAGGCAACATACTTGAGCAGAAAGGTGCCTATTTAATTTTTTAAACCTTGAAACATTCTCAGATACACAAAGTCATATTGTATAAAAATCAAACTGGATTTTAAAAAATAAACACATGCTTTTTAGAACTTGAGAGTTAATTAGAGTTAATTGCTTTATGGTACCTAAGTTTACCTATAATTCTGATGTGAAAAATTTGATGGGTCTGTTGAGATTAACTTTTGAATTGATTTTTGACAATGGGGCTACCTCTCTACCTCTGCCCATCCCAGCTTTTTTCTCTTGCCCATTTCTATTTTGTCATCAGAGGTACTCACATTCATCTAGCTCATTTTAATCAATTAAAATGTGTGTCTCTGACTAAAATGAAAACAAACAAGAAAATACTATTTTGATGGGCTTTTTCACACCTTACTCTTTCTGAAACTAAATAACTTTTAAAATTAACTTATTAATATAACATTTTATTTTCTCTTTTGTCTTCTCTTCTTAG
Seq C2 exon
GGCCCTCCTGGTCCACCAGGACTTCCAGGACCTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188153-COL4A5:NM_000495:10
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(32.8=100),PF0139113=Collagen=PU(18.6=52.4)
A:
NA
C2:
PF0139113=Collagen=FE(18.0=100),PF0139113=Collagen=FE(18.6=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion 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