Special

HsaALTD0001546-2/2 @ hg38

Alternative 5'ss

Gene
ENSG00000164692 | COL1A2
Description
collagen type I alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2198]
Coordinates
chr7:94427627-94428477:+
Coord C1 exon
chr7:94427627-94427882
Coord A exon
chr7:94427883-94427885
Coord C2 exon
chr7:94428293-94428477
Length
3 bp
Sequences
Splice sites
5' ss Seq
GTGGTAGGT
5' ss Score
7.23
3' ss Seq
GAATGTTATTTTCTTAAAAGGTT
3' ss Score
6.46
Exon sequences
Seq C1 exon
GGCCCCCCTGGTCCCCCTGGCCCTCCTGGACCTCCAGGTGTAAGCGGTGGTGGTTATGACTTTGGTTACGATGGAGACTTCTACAGGGCTGACCAGCCTCGCTCAGCACCTTCTCTCAGACCCAAGGACTATGAAGTTGATGCTACTCTGAAGTCTCTCAACAACCAGATTGAGACCCTTCTTACTCCTGAAGGCTCTAGAAAGAACCCAGCTCGCACATGCCGTGACTTGAGACTCAGCCACCCAGAGTGGAGCA
Seq A exon
GTG
Seq C2 exon
GTTACTACTGGATTGACCCTAACCAAGGATGCACTATGGATGCTATCAAAGTATACTGTGATTTCTCTACTGGCGAAACCTGTATCCGGGCCCAACCTGAAAACATCCCAGCCAAGAACTGGTATAGGAGCTCCAAGGACAAGAAACACGTCTGGCTAGGAGAAACTATCAATGCTGGCAGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692-84-78,85-78-2/2
Average complexity
Alt5
Mappability confidence:
NA
Protein Impact

Protein isoform when splice site is used (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.885 A=NA C2=0.016
Domain overlap (PFAM):

C1:
PF0139113=Collagen=PD(34.3=27.6),PF0141013=COLFI=PU(12.4=31.0)
A:
NA
C2:
PF0141013=COLFI=FE(28.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAAGAACCCAGCTCGCACAT
R:
GCATCCATAGTGCATCCTTGGT
Band lengths:
100-103
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