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:
HIT000053681
Accession number:
BC051788
Created date:
26-Mar-2013
Last modified:
20-Apr-2012
Definition:
Protocadherin gamma-B7 isoform 1 precursor.
Select format
Flat file
XML file
Nucleotide sequence fasta
Protein sequence fasta
Transcript original information
Accession number
BC051788.2
CAGE tag ID
NA
EST ID
NA
Clone Number
MGC:57549 IMAGE:4941167
Experimental resources
NBRC
;
HGPD
;
Antibody (PCDHGB7)
;
Catalog (PCDHGB7)
;
Sequence data provider
Provider:
MGC/NCI
;
Annotation project
H-Invitational FLcDNA
Length of cDNA
4771[bp] (No. of exon:4)[A:1092 T:1028 G:1263 C:1388]
Devision
HUM
Molecular type
mRNA
Library origin
Cell type
NA
Tissue type
Brain, anaplastic oligodendroglioma with 1p/19q loss
Develpmental stage
NA
Sequence quality information
CDS feature
Complete CDS
Kozak sequence
NA
PolyA
Site: 4757(+)
Vector/adapter sequence
NA
Frame shift
NA
Remaining intron
NA
Splice site acceptor (NAGNAG)
CAGAAG;
Transcript quality feature
NA
Notes
NA
CGACCCACGCGTCCGCCCACGCGTCCGAGCTCCCACACAGAGGCTCCCGG CTGCGCAGACCTTGCCCAGCACACCAGATTGCCAGCTCCGAGACCCGGGA CTCCTCATGTCCTGGGCCGAATGCTCTTTTAGCGCGGTAGAGTGCACTTT CTCCAACTGGAAAAGCGGGGACCCAGCGAGAACCCGAGCGAACGATGGGA GGGAGCTGCGCGCAGAGGCGCCGGGCCGGCCCGCGGCAGGTACTATTTCC TTTGCTGCTGCCTTTGTTCTACCCCACGCTGTGTGAGCCGATCCGCTACT CGATTCCGGAGGAGCTGGCCAAGGGCTCGGTGGTGGGGAACCTCGCTAAG GATCTAGGGCTTAGTGTCCTGGATGTGTCGGCTCGCGAGCTGCGAGTTAG CGCGGAGAAGCTGCACTTCAGCGTAGACGCGCAGAGCGGGGACTTACTTG TGAAGGACCGAATAGACCGTGAGCAAATATGCAAAGAGAGAAGAAGATGT GAGTTGCAATTGGAAGCTGTGGTGGAAAATCCTTTAAATATTTTTCATGT CATTGTGGTGATTGAGGATGTTAATGACCACGCCCCTCAATTCCGGAAAG ATGAAATAAACTTAGAAATCAGTGAATCCGTCAGCCTGGGGATGGGAACA ATTCTTGAGTCTGCAGAAGATCCTGATATTAGTATGAATTCGCTGAGCAA ATACCAACTAAGTCCTAACGAGTATTTCTCATTGGTGGAGAAAGACAATC CTGATGGTGGCAAATATCCAGAATTAGTATTGCAGAAGACTCTGGACCGA GAAACGCAGAGCGCTCACCACTTGGTACTGACCGCCTTAGATGGTGGGGA CCCTCCCCGAAGCGGTACTGCTCAGATAAGAATCCTGGTAATAGATGCCA ATGACAACCCCCCAGTGTTCAGCCAGGACGTGTACAGGGTTAGCCTTCGG GAAGACGTGCCTCCAGGCACCTCCATCCTGAGAGTGAAGGCCACTGACCA GGACGAGGGCATCAACTCAGAGATCACTTATTCCTTCTTTGGTGTGGCTG ACAAAGCTCAGCACGTGTTCTCTCTGGATTACACTACAGGAAACATTCTA ACTCAGCAGCCTTTGGATTTTGAAGAAGTAGAAAGATATACGATAAACAT AGAAGCAAAAGACCGAGGATCTCTCTCAACACGGTGTAAAGTAATTGTAG AAGTTGTAGACGAAAACGACAACAGCCCAGAAATAATCATCACGTCACTC TCTGATCAGATTATGGAGGATTCCCCTCCAGGAGTGGTTGTTGCCCTCTT CAAAACACGGGACCAAGACTCAGGGGAAAATGGGGAAGTCAGGTGTAGCT TAAGTAGAGGTGTTCCATTTAAGATTCATTCTTCTTCTAATAATTACTAC AAGCTAGTAACAGATGAGGCCCTGGATCGGGAGCAGACCCCAGAGTACAA CGTCACCATCGCAGCCACAGACAGGGGCAAGCCTCCGTTATCCTCCAGCA AAACCATAACCCTGCACATTACTGACGTCAATGACAACGCGCCGGTTTTC GGACAGTCAGCCTACCTGGTCCACGTGCCAGAAAACAACCAGCCGGGTGC CTCCATAGCGCAAGTCAGTGCCTCTGACCCAGACTTCGGGCTCAACGGCC GTGTCTCCTACTCTCTCATTGCCAGCGACCTGGAGTCACGAACGCTGTCG TCCTACGTGTCCGTGAGCGCGCAGAGCGGGGTGGTGTTCGCGCAGCGCGC CTTCGACCACGAGCAGCTGCGCACCTTCGAGCTCACGCTGCAGGCCCGCG ACCAGGGCTCGCCCGCGCTCAGCGCCAATGTGAGCCTGCGCGTGTTGGTG GGCGACCGTAACGACAACGCACCGCGGGTGCTGTACCCTGCGCTGGGTCC CGACGGCTCCGCGCTCTTCGACACAGTGCCGCGGGCCGCGCAGCCAGGCT ACCTGGTGACCAAGGTGGTGGCCGTGGACGCGGACTCGGGGCACAATGCC TGGCTGTCCTACCACGTGGTGCAGGCCAGTGAGCCCGGGCTCTTCAGCCT GGGGCTGCGAACAGGCGAGGTGCGCATGGTGCGTGCTTTGGGTGACAAGG ACTCGGTCCGCCAGCGCCTGCTAGTCGCTGTAAGAGATGGAGGACAGCCA CCCCTTTCAGCCACTGCCACGCTGCACCTGGTGTTCGCAGATAGCTTGCA AGAGGTACTGCCGGATTTCAGCGACCATCCCACACCCTCTGACTCCCAGG CTGAGATGCAGTTTTACCTGGTGGTGGCCTTGGCCTTGATTTCTGTGCTC TTTCTCCTCGCGGTGATTCTAGCTATTGCTCTACGCCTGCGACAGTCTTT CAGCCCTACTGCAGGAGACTGCTTTGAGTCAGTTCTCTGCTCCAAGTCCG GACCTGTGGGTCCCCCCAACTACAGTGAGGGAACGTTGCCCTATGCCTAT AATTTTTGTGTGCCTGGGGATCAAATGAATCCAGAATTTAATTTTTTCAC ATCTGTTGATCATTGTCCAGCCACACAAGATAACCTCAACAAAGATAGCA TGCTACTGGCTAGCATTTTAACTCCCAGCGTTGAAGCAGATAAGAAGATT CTTAAACAGCAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCA GAGACCCGGCACCAGCGGCTCCCAAAATGGCGATGACACCGGCACCTGGC CCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCTTGGCGTCC GCCAGTGAAGCTGCTGATGGGAGCTCCACCCTGGGAGGGGGTGCCGGCAC CATGGGATTGAGCGCCCGCTACGGACCCCAGTTCACCCTGCAGCACGTGC CCGACTACCGCCAGAATGTCTACATCCCAGGCAGCAATGCCACACTGACC AACGCAGCTGGCAAGCGGGATGGCAAGGCCCCAGCAGGTGGCAATGGCAA CAAGAAGAAGTCGGGCAAGAAGGAGAAGAAGTAACATGGAGGCCAGGCCA AGAGCCACAGGGCAGCCTCTCCCCAACCAGCCCAGCTTCTCCTTACCTGC ACCCAGGCCTCAGAGTTTCAGGGCTAACCCCCAGAATACTGGTAGGGGCC AAGGCCATGCTCCCCTTGGGAAACAGAAACAAGTGCCCAGTCAGCACCTA CCCCTTCCCCCCCAGGGGGTTGAATATGCAAAAGCAGTTCCGCTGGGAAC CCCCATCCAATCAACTGCTGTACCCATGGGGGTAGTGGGGTTACTGTAGA CACCAAGAACCATTTGCCACACCCCGTTTAGTTACAGCTGAACTCCTCCA TCTTCCAAATCAATCAGGCCCATCCATCCCATGCCTCCCTCCTCCCCACC CCACTCCAACAGTTCCTCTTTCCCGAGTAAGGTGGTTGGGGTGTTGAAGT ACCAAGTAACCTACAAGCCTCCTAGTTCTGAAAAGTTGGAAGGGCATCAT GACCTCTTGGCCTCTCCTTTGATTCTCAATCTTCCCCCAAAGCATGGTTT GGTGCCAGCCCCTTCACCTCCTTCCAGAGCCCAAGATCAATGCTCAAGTT TTGGAGGACATGATCACCATCCCCATGGTACTGATGCTTGCTGGATTTAG GGAGGGCATTTTGCTACCAAGCCTCTTCCCAACGCCCTGGGGACCAGTCT TCTGTTTTGTTTTTCATTGTTTGACGTTTCCACTGCATGCCTTGACTTCC CCCACCTCCTCCTCAAACAAGAGACTCCACTGCATGTTCCAAGACAGTAT GGGGTGGTAAGATAAGGAAGGGAAGTGTGTGGATGTGGATGGTGGGGGCA TGGACAAAGCTTGACACATCAAGTTATCAAGGCCTTGGAGGAGGCTCTGT ATGTCCTCAGGGGACTGACAACATCCTCCAGATTCCAGCCATAAACCAAT AACTAGGCTGGACCCTTCCCACTACATAATAGGGCTCAGCCCAGGCAGCC AGCTTTGGGCTGAGCTAACAGGACCAATGGATTAAACTGGCATTTCAGTC CAAGGAAGCTCGAAGCAGGTTTAGGACCAGGTCCCCTTGAGAGGTCAGAG GGGCCTCTGTGGGTGCTGGGTACTCCAGAGGTGCCACTGGTGGAAGGGTC AGCGGAGCCCCAGCAGGAAGGGTGGGCCAGCCAGGCCATTCTTAGTCCCT GGGTTGGGGAGGCAGGGAGCTAGGGCAGGGACCAAATGAACAGAAAGTCT CAGCCCAGGATGGGGCTTCTTCAACAGGGCCCCTGCCCTCCTGAAGCCTC AGTCCTTCACCTTGCCAGGTGCCGTTTCTCTTCCGTGAAGGCCACTGCCC AGGTCCCCAGTGCGCCCCCTAGTGGCCATAGCCTGGTTAAAGTTCCCCAG TGCCTCCTTGTGCATAGACCTTCTTCTCCCACCCCCTTCTGCCCCTGGGT CCCCGGCCATCCAGCGGGGCTGCCAGAGAACCCCAGACCTGCCCTTACAG TAGTGTAGCGCCCCCTCCCTCTTTCGGCTGGTGTAGAATAGCCAGTAGTG TAGTGCGGTGTGCTTTTACGTGATGGCGGGTGGGCAGCGGGCGGCGGGCT CCGCGCAGCCGTCTGTCCTTGATCTGCCCGCGGCGGCCCGTGTTGTGTTT TGTGCTGTGTCCACGCGCTAAGGCGACCCCCTCCCCCGTACTGACTTCTC CTATAAGCGCTTCTCTTCGCATAGTCACGTAGCTCCCACCCCACCCTCTT CCTGTGTCTCACGCAAGTTTTATACTCTAATATTTATATGGCTTTTTTTC TTCGACAAAAAAAAAAAAAAA
Gene structure information
H-Inv cluster ID
HIX0005252
Genomic location
Chromosome
5
Location
5q31.3
Position
140797260- 140892513
Strand
+
Possible duplicated location(s)
NA
Gene structure
4 exon(s)
Database links
RefSeq
NM_002588
;
NM_003735
;
NM_003736
;
NM_014004
;
NM_018912
;
NM_018913
;
NM_018914
;
NM_018915
;
NM_018916
;
NM_018917
;
NM_018918
;
NM_018919
;
NM_018920
;
NM_018921
;
NM_018922
;
NM_018923
;
NM_018924
;
NM_018925
;
NM_018926
;
NM_018927
;
NM_018928
;
NM_018929
;
NM_031993
;
NM_032009
;
NM_032011
;
NM_032053
;
NM_032054
;
NM_032086
;
NM_032087
;
NM_032088
;
NM_032089
;
NM_032090
;
NM_032091
;
NM_032092
;
NM_032094
;
NM_032095
;
NM_032096
;
NM_032097
;
NM_032098
;
NM_032099
;
NM_032100
;
NM_032101
;
NM_032402
;
NM_032403
;
NM_032406
;
NM_032407
;
Ensembl
ENST00000252085
;
ENST00000252087
;
ENST00000253812
;
ENST00000305759
;
ENST00000306593
;
ENST00000308177
;
ENST00000378105
;
ENST00000394576
;
ENST00000398587
;
ENST00000398594
;
ENST00000398604
;
ENST00000398610
;
ENST00000517417
;
ENST00000517434
;
ENST00000518069
;
ENST00000518325
;
ENST00000518882
;
ENST00000520790
;
ENST00000522605
;
ENST00000523390
;
ENST00000528330
;
Entrez Gene
Entrez Gene ID:56099
;
KEGG GENES
KEGG GENES(56099)
;
GeneCard
PCDHGB7
;
*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
HIP000056703
Predicted CDS
195..2984; 929[aa]; Orientation:+3;
Codon Adaptation Index (CAI).
0.747
Database links
RefSeq
NP_061750
;
UniProt
Q9Y5F8
;
CCDS
CCDS47293
;
MGGSCAQRRRAGPRQVLFPLLLPLFYPTLCEPIRYSIPEELAKGSVVGNL AKDLGLSVLDVSARELRVSAEKLHFSVDAQSGDLLVKDRIDREQICKERR RCELQLEAVVENPLNIFHVIVVIEDVNDHAPQFRKDEINLEISESVSLGM GTILESAEDPDISMNSLSKYQLSPNEYFSLVEKDNPDGGKYPELVLQKTL DRETQSAHHLVLTALDGGDPPRSGTAQIRILVIDANDNPPVFSQDVYRVS LREDVPPGTSILRVKATDQDEGINSEITYSFFGVADKAQHVFSLDYTTGN ILTQQPLDFEEVERYTINIEAKDRGSLSTRCKVIVEVVDENDNSPEIIIT SLSDQIMEDSPPGVVVALFKTRDQDSGENGEVRCSLSRGVPFKIHSSSNN YYKLVTDEALDREQTPEYNVTIAATDRGKPPLSSSKTITLHITDVNDNAP VFGQSAYLVHVPENNQPGASIAQVSASDPDFGLNGRVSYSLIASDLESRT LSSYVSVSAQSGVVFAQRAFDHEQLRTFELTLQARDQGSPALSANVSLRV LVGDRNDNAPRVLYPALGPDGSALFDTVPRAAQPGYLVTKVVAVDADSGH NAWLSYHVVQASEPGLFSLGLRTGEVRMVRALGDKDSVRQRLLVAVRDGG QPPLSATATLHLVFADSLQEVLPDFSDHPTPSDSQAEMQFYLVVALALIS VLFLLAVILAIALRLRQSFSPTAGDCFESVLCSKSGPVGPPNYSEGTLPY AYNFCVPGDQMNPEFNFFTSVDHCPATQDNLNKDSMLLASILTPSVEADK KILKQQAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL ASASEAADGSSTLGGGAGTMGLSARYGPQFTLQHVPDYRQNVYIPGSNAT LTNAAGKRDGKAPAGGNGNKKKSGKKEKK*
Motif information
a.a.
length
InterPro
Name
924
IPR015492
Protocadherin gamma [Family]
103
IPR015919
Cadherin-like [Domain]
81
IPR013164
Cadherin, N-terminal [Domain]
98
IPR002126
Cadherin [Domain]
76
IPR002126
Cadherin [Domain]
20
IPR002126
Cadherin [Domain]
59
IPR002126
Cadherin [Domain]
11
IPR020894
Cadherin conserved site [Conserved_site]
109
IPR015919
Cadherin-like [Domain]
110
IPR002126
Cadherin [Domain]
109
IPR002126
Cadherin [Domain]
92
IPR002126
Cadherin [Domain]
86
IPR002126
Cadherin [Domain]
11
IPR020894
Cadherin conserved site [Conserved_site]
105
IPR015919
Cadherin-like [Domain]
104
IPR002126
Cadherin [Domain]
30
IPR002126
Cadherin [Domain]
105
IPR002126
Cadherin [Domain]
91
IPR002126
Cadherin [Domain]
82
IPR002126
Cadherin [Domain]
13
IPR002126
Cadherin [Domain]
11
IPR020894
Cadherin conserved site [Conserved_site]
105
IPR015919
Cadherin-like [Domain]
105
IPR002126
Cadherin [Domain]
105
IPR002126
Cadherin [Domain]
88
IPR002126
Cadherin [Domain]
82
IPR002126
Cadherin [Domain]
20
IPR002126
Cadherin [Domain]
11
IPR020894
Cadherin conserved site [Conserved_site]
110
IPR015919
Cadherin-like [Domain]
114
IPR002126
Cadherin [Domain]
14
IPR002126
Cadherin [Domain]
110
IPR002126
Cadherin [Domain]
96
IPR002126
Cadherin [Domain]
87
IPR002126
Cadherin [Domain]
27
IPR002126
Cadherin [Domain]
18
IPR002126
Cadherin [Domain]
11
IPR020894
Cadherin conserved site [Conserved_site]
112
IPR015919
Cadherin-like [Domain]
99
IPR002126
Cadherin [Domain]
90
IPR002126
Cadherin [Domain]
82
IPR002126
Cadherin [Domain]
82
IPR002126
Cadherin [Domain]
Gene function information
H-Inv ID
HIT000053681
H-Inv cluster ID
HIX0005252
Accession number
BC051788.2
CAGE tag ID
NA
EST ID
NA
Transcript feature
NO;
Splicing isoform
Coding potential
Protein coding;
Definition
Protocadherin gamma-B7 isoform 1 precursor.
Similarity category
Category: Identical to known human protein(Category I).
Identical to known human protein (
NP_061750
) [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
PCDHGB7
HGNC aliases
NA
HGNC name
protocadherin gamma subfamily B, 7
DDBJ
PCDHGB7
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
HIP000056703
No. of interaction
2
Interaction partner(s)
HIP000042582
;
HIP000042582
;
BIND
NA
DIP
132891E;
MINT
NA
HPRD
NA
IntAct
EBI-2001944;
Database links
RefSeq
NM_002588
;
NM_003735
;
NM_003736
;
NM_014004
;
NM_018912
;
NM_018913
;
NM_018914
;
NM_018915
;
NM_018916
;
NM_018917
;
NM_018918
;
NM_018919
;
NM_018920
;
NM_018921
;
NM_018922
;
NM_018923
;
NM_018924
;
NM_018925
;
NM_018926
;
NM_018927
;
NM_018928
;
NM_018929
;
NM_031993
;
NM_032009
;
NM_032011
;
NM_032053
;
NM_032054
;
NM_032086
;
NM_032087
;
NM_032088
;
NM_032089
;
NM_032090
;
NM_032091
;
NM_032092
;
NM_032094
;
NM_032095
;
NM_032096
;
NM_032097
;
NM_032098
;
NM_032099
;
NM_032100
;
NM_032101
;
NM_032402
;
NM_032403
;
NM_032406
;
NM_032407
;
Ensembl
ENST00000252085
;
ENST00000252087
;
ENST00000253812
;
ENST00000305759
;
ENST00000306593
;
ENST00000308177
;
ENST00000378105
;
ENST00000394576
;
ENST00000398587
;
ENST00000398594
;
ENST00000398604
;
ENST00000398610
;
ENST00000517417
;
ENST00000517434
;
ENST00000518069
;
ENST00000518325
;
ENST00000518882
;
ENST00000520790
;
ENST00000522605
;
ENST00000523390
;
ENST00000528330
;
Entrez Gene
Entrez Gene ID:56099
;
KEGG GENES
KEGG GENES(56099)
;
GeneCard
PCDHGB7
;
*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
Gene ontology information
Molecular function
calcium ion binding (
GO:0005509
);
Biological process
homophilic cell adhesion (
GO:0007156
);
Cellular component
membrane (
GO:0016020
);
Subcellular localization information
Last modified:20-Apr-2012
WoLF PSORT
extracellular; plasma membrane; peroxisome; 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
34
97
1f5aA1
6e-14
21.7
60/118
d.58.16.1
75
166
2fwuA1
5e-09
19.6
88/157
b.1.27.1
198
602
1dnvA
3e-71
9.7
372/415
b.121.5.3
584
661
1edhA1
2e-12
9.8
78/99
b.1.6.1
Related H-InvDB links
GTOP
Gene expression information
Last modified:20-Apr-2012
Tissue-specific expression
NA
Probe
information
AceGene
AGhsA110116; AGhsB190717;
Affymetrix
GeneChip
HG-Focus
215836_s_at;
HG-U133
205717_x_at; 209079_x_at; 211066_x_at; 211876_x_at; 215836_s_at; 216352_x_at;
HG-U133A
205717_x_at; 209079_x_at; 211066_x_at; 211876_x_at; 215836_s_at; 216352_x_at;
HG-U133A_2
205717_x_at; 209079_x_at; 211066_x_at; 211876_x_at; 215836_s_at; 216352_x_at;
HG-U133B
NA
HG-U133_Plus_2
1552662_a_at; 205717_x_at; 209079_x_at; 211066_x_at; 211876_x_at; 215836_s_at; 216352_x_at;
HG-U95
1169_at; 657_at;
HG-U95A
1169_at; 657_at;
HG-U95B
NA
HG-U95C
NA
HG-U95D
NA
HG-U95E
NA
HG-U95Av2
NA
HuEx-1_0
2832573; 2832626; 2832627; 2832628; 2832629; 2832646; 2832647; 2832648; 2832649; 2832650; 2832651; 2832751; 2832754; 2832758; 2832759; 2832760; 2832761; 2832762; 2832763; 2832764; 2832765; 2832766; 2832767; 2832768; 2832769; 2878647; 2878649; 2878661;
HuGeneFL
D88799_at; L11373_at;
Agilent
Human 1A Oligo Microarray:PGID215
A_23_P354734;
Whole Human Genome Oligo Microarray:PGID247
A_23_P354734;
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:(56099)
Disease
Entrez Gene ID:(56099)
Substance
Entrez Gene ID:(56099)
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
107 .. 107
A/C
rs2240701
+
5'UTR
153 .. 153
C/T
rs59981184
+
5'UTR
398 .. 398
T/G
rs2015825
+
CDS
Synonymous[Val68Val]
537 ^ 538
-/C
rs11386689
+
CDS
1407 .. 1407
G/C
rs17208397
+
CDS
Nonsynonymous[Val405Leu]
1647 .. 1647
G/C
rs35892780
+
CDS
Nonsynonymous[Gly485Arg]
1680 .. 1680
C/T
rs111954647
+
CDS
Synonymous[Leu496Leu]
1760 .. 1760
C/T
rs3749766
-
CDS
Synonymous[His522His]
1840 .. 1840
G/A
rs115850576
+
CDS
Nonsynonymous[Arg549His]
2037 .. 2037
G/A
rs116279995
+
CDS
Nonsynonymous[Gly615Arg]
2580 .. 2580
G/A
rs72790042
+
CDS
Nonsynonymous[Val796Ile]
2814 .. 2814
G/A
rs114669158
+
CDS
Nonsynonymous[Ala874Thr]
2825 .. 2825
A/G
rs2233612
+
CDS
Synonymous[Gly877Gly]
2847 .. 2847
G/A
rs116366286
+
CDS
Nonsynonymous[Val885Met]
2860 .. 2860
G/A
rs61749029
+
CDS
Nonsynonymous[Arg889His]
3014 .. 3014
A/G
rs2233613
+
3'UTR
3119 .. 3119
G/A
rs76613492
+
3'UTR
3175 .. 3175
T/C
rs115159796
+
3'UTR
3439 .. 3439
G/C
rs4912608
+
3'UTR
3697 .. 3697
T/C
rs113814137
+
3'UTR
4005 .. 4005
G/A
rs111365449
+
3'UTR
4196 .. 4196
A/G
rs78180647
+
3'UTR
4725 .. 4725
C/T
rs112402554
+
3'UTR
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
;