H-InvDB_8.3 released on March 26, 2013.
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H-Inv ID (HIT)
H-Inv cluster ID (HIX)
H-Inv protein ID (HIP)
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Definition*
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---
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H-Invitational ID:
HIT000071798
Accession number:
AF152494
Created date:
26-Mar-2013
Last modified:
20-Apr-2012
Definition:
Protocadherin beta-15 precursor.
Select format
Flat file
XML file
Nucleotide sequence fasta
Protein sequence fasta
Transcript original information
Accession number
AF152494.1
CAGE tag ID
NA
EST ID
NA
Clone Number
NA
Experimental resources
NBRC
;
HGPD
;
Antibody (PCDHB15)
;
Catalog (PCDHB15)
;
Sequence data provider
NA
Annotation project
NA
Length of cDNA
2364[bp] (No. of exon:1)[A:535 T:503 G:667 C:659]
Devision
HUM
Molecular type
mRNA
Library origin
Cell type
NA
Tissue type
NA
Develpmental stage
NA
Sequence quality information
CDS feature
Complete CDS
Kozak sequence
NA
PolyA
NA
Vector/adapter sequence
NA
Frame shift
NA
Remaining intron
NA
Splice site acceptor (NAGNAG)
NA
Transcript quality feature
NA
Notes
NA
ATGGAGCCTGCAGGGGAGCGCTTTCCCGAACAAAGGCAAGTCCTGATTCT CCTTCTTTTACTGGAAGTGACTCTGGCAGGCTGGGAACCCCGTCGCTATT CTGTGATGGAGGAAACAGAGAGAGGTTCTTTTGTAGCCAACCTGGCCAAT GACCTAGGGCTGGGAGTGGGGGAGCTAGCCGAGCGGGGAGCCCGGGTAGT TTCTGAGGATAACGAACAAGGCTTGCAGCTTGATCTGCAGACCGGGCAGT TGATATTAAATGAGAAGCTGGACCGGGAGAAGCTGTGTGGCCCTACTGAG CCCTGTATAATGCATTTCCAAGTGTTACTGAAAAAACCTTTGGAAGTATT TCGAGCTGAACTACTAGTGACAGACATAAACGATCATTCTCCTGAGTTTC CTGAAAGAGAAATGACCCTGAAAATCCCAGAAACTAGCTCCCTTGGGACT GTGTTTCCTCTGAAAAAAGCTCGGGACTTGGACGTGGGCAGCAATAATGT TCAAAACTACAATATTTCTCCCAATTCTCATTTCCATGTTTCCACTCGCA CCCGAGGGGATGGCAGGAAATACCCAGAGCTGGTGCTGGACACAGAACTG GATCGCGAGGAGCAGGCCGAGCTCAGATTAACCTTGACAGCGGTGGACGG TGGCTCTCCACCCCGATCTGGCACCGTCCAGATCCTCATCTTGGTCTTGG ACGCCAATGACAATGCCCCGGAGTTTGTGCAGGCGCTCTACGAGGTGCAG GTCCCAGAGAACAGCCCAGTAGGCTCCCTAGTTGTCAAGGTCTCTGCTAG GGATTTAGACACTGGGACAAATGGAGAGATATCATACTCCCTTTATTACA GCTCTCAGGAGATAGACAAACCTTTTGAGCTAAGCAGCCTTTCAGGAGAA ATTCGACTAATTAAAAAACTAGATTTTGAGACAATGTCTTCGTATGATCT AGATATAGAGGCATCTGATGGCGGGGGACTTTCTGGAAAATGCTCTGTCT CTGTTAAGGTGCTGGATGTTAACGATAACTTCCCGGAACTAAGTATTTCA TCACTTACCAGCCCTATTCCCGAGAATTCTCCAGAGACAGAAGTGGCCCT GTTTAGGATTAGAGACCGAGACTCTGGGGAAAATGGAAAAATGATTTGCT CAATTCAGGATGATGTTCCTTTTAAGCTAAAACCTTCTGTTGAGAATTTC TACAGGCTGGTAACAGAAGGGGCGCTGGACAGAGAGACCAGAGCCGAGTA CAACATCACCATCACCATCACAGACTTGGGGACTCCAAGGCTGAAAACCG AGCAGAGCATAACCGTGCTGGTGTCGGACGTCAATGACAACGCCCCCGCC TTCACCCAAACCTCCTACACCCTGTTCGTCCGCGAGAACAACAGCCCCGC CCTGCACATCGGCAGTGTCAGCGCCACAGACAGAGACTCGGGCACCAACG CCCAGGTCACCTACTCGCTGCTGCCGCCCCGGGACCCGCACCTGCCCCTC ACCTCCCTGGTCTCCATTAACACGGACAACGGCCACCTGTTCGCTCTCCA GTCGCTGGACTACGAGGCCCTGCAGGCTTTCGAGTTCCGCGTGGGCGCCA CAGACCGCGGCTTCCCGGCGCTGAGCAGCGAGGCGCTGGTGCGAGTGCTG GTGCTGGACGCCAACGACAACTCGCCCTTCGTGCTGTACCCGCTGCAGAA CGGCTCCGCGCCCTGCACCGAGCTGGTGCCCCGGGCGGCCGAGCCGGGCT ACCTGGTGACCAAGGTGGTGGCGGTGGACGGCGACTCGGGCCAGAACGCC TGGCTGTCGTACCAGCTGCTCAAGGCCACGGAGCCCGGGCTGTTCGGCGT GTGGGCGCACAATGGCGAGGTGCGCACCGCCAGGCTGCTGAGCGAGCGCG ACGTGGCCAAGCACAGGCTAGTGGTGCTGGTCAAGGACAATGGCGAGCCT CCGCGCTCGGCCACCGCCACGCTGCAAGTGCTCCTGGTGGACGGCTTCTC TCAGCCCTACCTGCCGCTCCCAGAGGCGGCCCCGGCCCAAGCCCAGGCCG ACTCGCTTACCGTCTACCTGGTGGTGGCATTGGCCTCGGTGTCTTCGCTC TTCCTCTTCTCGGTGTTCCTGTTCGTGGCAGTGCGGCTGTGCAGGAGGAG CAGGGCGGCCTCAGTGGGTCGCTGCTCGGTGCCCGAGGGCCCCTTTCCAG GGCATCTGGTGGACGTGAGCGGCACCGGGACCCTTTCCCAGAGCTACCAG TACGAGGTGTGTCTGACGGGAGGCTCTGAAAGTAATGATTTCAAGTTCTT GAAGCCTATATTCCCAAATATTGTAAGCCAGGACTCTAGGAGGAAATCAG AATTTCTAGAATAA
Gene structure information
H-Inv cluster ID
HIX0024802
Genomic location
Chromosome
5
Location
5q31.3
Position
140625147- 140627510
Strand
+
Possible duplicated location(s)
NA
Gene structure
1 exon(s)
Database links
RefSeq
NM_018935
;
Ensembl
ENST00000231173
;
Entrez Gene
Entrez Gene ID:56121
;
KEGG GENES
KEGG GENES(56121)
;
GeneCard
PCDHB15
;
*GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links
H-DBAS;
G-integra
;
cDNA-genome alignment
;
Predicted CDS information
HIP ID
HIP000048753
Predicted CDS
1..2364; 787[aa]; Orientation:+1;
Codon Adaptation Index (CAI).
0.758
Database links
RefSeq
NP_061758
;
UniProt
Q9Y5E8
;
CCDS
CCDS4257
;
MEPAGERFPEQRQVLILLLLLEVTLAGWEPRRYSVMEETERGSFVANLAN DLGLGVGELAERGARVVSEDNEQGLQLDLQTGQLILNEKLDREKLCGPTE PCIMHFQVLLKKPLEVFRAELLVTDINDHSPEFPEREMTLKIPETSSLGT VFPLKKARDLDVGSNNVQNYNISPNSHFHVSTRTRGDGRKYPELVLDTEL DREEQAELRLTLTAVDGGSPPRSGTVQILILVLDANDNAPEFVQALYEVQ VPENSPVGSLVVKVSARDLDTGTNGEISYSLYYSSQEIDKPFELSSLSGE IRLIKKLDFETMSSYDLDIEASDGGGLSGKCSVSVKVLDVNDNFPELSIS SLTSPIPENSPETEVALFRIRDRDSGENGKMICSIQDDVPFKLKPSVENF YRLVTEGALDRETRAEYNITITITDLGTPRLKTEQSITVLVSDVNDNAPA FTQTSYTLFVRENNSPALHIGSVSATDRDSGTNAQVTYSLLPPRDPHLPL TSLVSINTDNGHLFALQSLDYEALQAFEFRVGATDRGFPALSSEALVRVL VLDANDNSPFVLYPLQNGSAPCTELVPRAAEPGYLVTKVVAVDGDSGQNA WLSYQLLKATEPGLFGVWAHNGEVRTARLLSERDVAKHRLVVLVKDNGEP PRSATATLQVLLVDGFSQPYLPLPEAAPAQAQADSLTVYLVVALASVSSL FLFSVFLFVAVRLCRRSRAASVGRCSVPEGPFPGHLVDVSGTGTLSQSYQ YEVCLTGGSESNDFKFLKPIFPNIVSQDSRRKSEFLE*
Gene function information
H-Inv ID
HIT000071798
H-Inv cluster ID
HIX0024802
Accession number
AF152494.1
CAGE tag ID
NA
EST ID
NA
Transcript feature
NO;
Coding potential
Protein coding;
Definition
Protocadherin beta-15 precursor.
Similarity category
Category: Identical to known human protein(Category I).
Identical to known human protein (
NP_061758
) [Identity/coverage = 100.0%/100.0%] to Homo sapiens protein.
Experimental evidence
Protein evidence
PubMed ID
NA
Gene family/group
H-Inv gene family/group ID
HIF0000005
Gene family/group name
Putative Zinc finger, C2H2-type (IPR007087).
Evidence motif (InterPro) ID
IPR007087
Gene symbol/name
HGNC symbol
PCDHB15
HGNC aliases
NA
HGNC name
protocadherin beta 15
DDBJ
PCDH-beta15
UniProt
NA
EC number
NA
GGDB
(GlycoGene Database)
Gene symbol
NA
Familly
NA
Designation
NA
Expression
NA
KEGG metabolic pathway
NA
Protein-protein interaction (PPI)
H-Inv protein ID
HIP000048753
No. of interaction
1
Interaction partner(s)
HIP000049801
;
BIND
NA
DIP
NA
MINT
NA
HPRD
NA
IntAct
EBI-3446699;
Database links
RefSeq
NM_018935
;
Ensembl
ENST00000231173
;
Entrez Gene
Entrez Gene ID:56121
;
KEGG GENES
KEGG GENES(56121)
;
GeneCard
PCDHB15
;
*GeneCards is provided free to academic non-profit institutions.
etc
Human-Gene diversity Of Life-style related Diseases
;
Curation status
Auto-annotated
Notes
NA
Related H-InvDB links
Putative Zinc finger, C2H2-type (IPR007087).
Similarity Search Tool;
TACT
;
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome.
NA
Subcellular localization information
Last modified:20-Apr-2012
WoLF PSORT
endoplasmic; extracellular; plasma membrane; Other;
Target P
signal peptide
SOSUI
membrane protein
TMHMM
membrane protein
PTS1
Not targeted
Related H-InvDB links
LIFEdb;
JRE-1.4.0 or later is required.
Download JRE at
Sun's web site.
Protein structure information (GTOP)
Last modified:20-Apr-2012
Start
End
PDB_ID
E-value
Identity
Coverage
SCOP_ID
27
97
1f5aA1
2e-14
15.4
65/118
d.58.16.1
123
217
1p32A
4e-06
6.8
93/182
d.25.1.1
199
616
1dnvA
1e-65
8.6
384/415
b.121.5.3
595
660
1fx3A
3e-04
8.0
64/143
d.33.1.1
Related H-InvDB links
GTOP
Gene expression information
Last modified:20-Apr-2012
Tissue-specific expression
NA
Probe
information
AceGene
AGhsA220218;
Affymetrix
GeneChip
HG-Focus
NA
HG-U133
NA
HG-U133A
NA
HG-U133A_2
NA
HG-U133B
NA
HG-U133_Plus_2
NA
HG-U95
NA
HG-U95A
NA
HG-U95B
NA
HG-U95C
NA
HG-U95D
NA
HG-U95E
NA
HG-U95Av2
NA
HuEx-1_0
2832502; 2832503; 2832505; 2832506;
HuGeneFL
NA
Agilent
Human 1A Oligo Microarray:PGID215
A_23_P121851;
Whole Human Genome Oligo Microarray:PGID247
A_23_P121851;
Related H-InvDB links
H-ANGEL
;
DNAProbeLocator
;
Disease/pathology information
Last modified:20-Apr-2012
Disease relation
Disease name:NA
Related information in OMIM
OMIM ID:NA Title:NA
Co-localized orphan diseases
OMIM ID:
601888
;
608850
;
611091
;
612554
;
612571
;
Disease related mutation
NA
Literature-Extracted GENe-Disease Associations (LEGENDA)
Gene name
Entrez Gene ID:(56121)
Disease
Entrez Gene ID:(56121)
Substance
Entrez Gene ID:(56121)
Related H-InvDB links
DiseaseInfo Viewer
;
LEGENDA
;
Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information
Single Nucleotide Polymorphism (SNP) and indel
Location
Variation
dbSNP ID
Strand
CDS/UTR
Translation
61 .. 61
C/T
rs35154204
+
CDS
Synonymous[Leu21Leu]
188 .. 188
G/A
rs2907300
-
CDS
Nonsynonymous[Gly63Glu]
357 .. 357
T/G
rs74906746
+
CDS
Synonymous[Ala119Ala]
471 .. 471
T/C
rs17844620
+
CDS
Synonymous[Ala157Ala]
529 .. 529
C/T
rs76728356
+
CDS
Nonsynonymous[His177Tyr]
625 .. 625
A/C
rs114818434
+
CDS
Synonymous[Arg209Arg]
795 .. 795
T/C
rs117739157
+
CDS
Synonymous[Ser265Ser]
1079 .. 1079
C/A
rs113438705
+
CDS
Nonsynonymous[Ser360Tyr]
1214 .. 1214
C/G
rs116551897
+
CDS
Nonsynonymous[Thr405Arg]
1233 .. 1233
A/G
rs112359544
+
CDS
Synonymous[Arg411Arg]
1303 .. 1303
C/T
rs61743631
+
CDS
AA-STOP[Gln435*]
1383 .. 1383
C/G
rs17844564
+
CDS
Synonymous[Arg461Arg]
1402 .. 1402
C/A
rs58830954
+
CDS
Nonsynonymous[Leu468Met]
1420 .. 1420
A/C
rs61741604
+
CDS
Nonsynonymous[Ser474Arg]
1420 .. 1420
A/C
rs618506
-
CDS
Nonsynonymous[Ser474Arg]
1425 .. 1425
C/A
rs61741603
+
CDS
Synonymous[Ala475Ala]
1425 .. 1425
C/A
rs652104
-
CDS
Synonymous[Ala475Ala]
1481 .. 1481
G/A
rs618096
-
CDS
Nonsynonymous[Arg494Gln]
1482 .. 1482
G/A
rs61742728
+
CDS
Synonymous[Arg494Arg]
1500 .. 1500
C/A
rs61742733
+
CDS
Synonymous[Leu500Leu]
1501 .. 1501
A/T
rs61742734
+
CDS
Nonsynonymous[Thr501Ser]
1503 .. 1503
C/T
rs61742735
+
CDS
Synonymous[Thr501Thr]
1518 .. 1518
T/C
rs61742737
+
CDS
Synonymous[Ile506Ile]
1522 .. 1522
A/G
rs61745117
+
CDS
Nonsynonymous[Thr508Ala]
1578 .. 1578
T/G
rs3776091
-
CDS
Synonymous[Ala526Ala]
1611 .. 1611
C/G
rs17844626
+
CDS
Synonymous[Gly537Gly]
1613 .. 1613
T/C
rs17844627
+
CDS
Nonsynonymous[Phe538Ser]
1614 .. 1614
C/T
rs17844628
+
CDS
Synonymous[Phe538Phe]
1621 .. 1621
C/T
rs3096081
+
CDS
Synonymous[Leu541Leu]
1632 .. 1632
G/A
rs112457389
+
CDS
Synonymous[Glu544Glu]
1644 .. 1644
A/C
rs3096082
+
CDS
Synonymous[Arg548Arg]
1671 .. 1671
C/T
rs17844631
+
CDS
Synonymous[Asn557Asn]
1709 .. 1709
C/T
rs56840646
+
CDS
Nonsynonymous[Ala570Val]
1782 .. 1782
C/T
rs113508999
+
CDS
Synonymous[Gly594Gly]
1854 .. 1854
G/A
rs17844633
+
CDS
AA-STOP[Trp618*]
1856 .. 1856
C/G
rs17844634
+
CDS
Nonsynonymous[Ala619Gly]
1874 .. 1874
G/T
rs77506821
+
CDS
Nonsynonymous[Arg625Leu]
1904 .. 1904
T/C
rs17844635
+
CDS
Nonsynonymous[Val635Ala]
1920 .. 1920
A/G
rs17844636
+
CDS
Synonymous[Leu640Leu]
1965 .. 1965
C/A
rs78481388
+
CDS
Synonymous[Thr655Thr]
2038 .. 2038
C/G
rs79326925
+
CDS
Nonsynonymous[Gln680Glu]
2363 .. 2363
A/G
rs80263204
+
CDS
Synonymous_atSTOP[*788*]
Microsatellite (Short Tandem Repeat, STR)
No data available
Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
Repeat
No data available
Database links
Human-Gene diversity Of Life-style related Diseases(H-GOLD)
;
Related H-InvDB links
VaryGene
;
Repeat Mask Viewer
;