BRICD5 (BRICHOS domain containing 5) - Rat Genome Database

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Gene: BRICD5 (BRICHOS domain containing 5) Homo sapiens
Analyze
Symbol: BRICD5
Name: BRICHOS domain containing 5
RGD ID: 1602822
HGNC Page HGNC:28309
Description: Predicted to be involved in regulation of cell population proliferation. Predicted to be located in membrane. Predicted to be active in extracellular space.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: BRICHOS domain-containing protein 5; BRICHOS domain-containing protein C16orf79; C16orf79; chromosome 16 open reading frame 79; MGC21830
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38162,209,253 - 2,210,863 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl162,209,253 - 2,210,905 (-)EnsemblGRCh38hg38GRCh38
GRCh37162,259,254 - 2,260,864 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36162,199,255 - 2,201,012 (-)NCBINCBI36Build 36hg18NCBI36
Celera162,473,671 - 2,475,428 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef162,185,432 - 2,187,247 (-)NCBIHuRef
CHM1_1162,259,180 - 2,260,995 (-)NCBICHM1_1
T2T-CHM13v2.0162,231,710 - 2,233,320 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:17207965   PMID:21873635   PMID:24623722   PMID:25416956   PMID:32296183   PMID:32393512   PMID:33961781  


Genomics

Comparative Map Data
BRICD5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38162,209,253 - 2,210,863 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl162,209,253 - 2,210,905 (-)EnsemblGRCh38hg38GRCh38
GRCh37162,259,254 - 2,260,864 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36162,199,255 - 2,201,012 (-)NCBINCBI36Build 36hg18NCBI36
Celera162,473,671 - 2,475,428 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef162,185,432 - 2,187,247 (-)NCBIHuRef
CHM1_1162,259,180 - 2,260,995 (-)NCBICHM1_1
T2T-CHM13v2.0162,231,710 - 2,233,320 (-)NCBIT2T-CHM13v2.0
Bricd5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391724,692,858 - 24,694,443 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1724,692,858 - 24,694,443 (+)EnsemblGRCm39 Ensembl
GRCm381724,473,487 - 24,475,471 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1724,473,884 - 24,475,469 (+)EnsemblGRCm38mm10GRCm38
MGSCv371724,610,829 - 24,612,414 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361724,201,484 - 24,203,069 (+)NCBIMGSCv36mm8
Celera1724,989,660 - 24,991,245 (+)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1712.39NCBI
Bricd5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81014,003,276 - 14,004,809 (+)NCBIGRCr8
mRatBN7.21013,498,726 - 13,500,259 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1013,498,381 - 13,500,259 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1018,245,294 - 18,246,827 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01017,734,139 - 17,735,672 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01013,233,324 - 13,234,857 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01013,839,599 - 13,841,132 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1013,839,956 - 13,841,018 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01013,656,585 - 13,658,118 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41013,725,912 - 13,727,392 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1013,179,206 - 13,180,739 (+)NCBICelera
Cytogenetic Map10q12NCBI
Bricd5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544215,055,513 - 15,060,526 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544215,054,116 - 15,056,506 (+)NCBIChiLan1.0ChiLan1.0
BRICD5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2182,712,154 - 2,714,336 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1166,493,122 - 6,495,662 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0161,067,543 - 1,069,836 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1162,310,660 - 2,312,995 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl162,310,660 - 2,312,995 (-)Ensemblpanpan1.1panPan2
BRICD5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1638,760,164 - 38,761,718 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl638,758,254 - 38,761,735 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha639,998,655 - 40,001,015 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0639,067,850 - 39,070,210 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl639,068,650 - 39,070,105 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1638,752,860 - 38,755,220 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0638,725,186 - 38,727,546 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0639,203,907 - 39,206,267 (+)NCBIUU_Cfam_GSD_1.0
Bricd5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344104,870,513 - 104,872,046 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366941,837,357 - 1,838,819 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366941,836,566 - 1,838,950 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BRICD5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl339,780,940 - 39,782,466 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1339,780,707 - 39,782,478 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2342,398,543 - 42,400,868 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BRICD5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.152,105,125 - 2,107,353 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl52,105,235 - 2,106,695 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606828,952,865 - 28,956,678 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bricd5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462491348,343 - 50,669 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462491348,445 - 50,752 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BRICD5
18 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3 copy number gain See cases [RCV000052368] Chr16:29941..2560460 [GRCh38]
Chr16:79941..2610461 [GRCh37]
Chr16:19941..2550462 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 copy number gain See cases [RCV000052370] Chr16:46766..3214623 [GRCh38]
Chr16:96766..3264623 [GRCh37]
Chr16:36766..3204624 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3 copy number gain See cases [RCV000052373] Chr16:1221651..2233773 [GRCh38]
Chr16:1271651..2283774 [GRCh37]
Chr16:1211652..2223775 [NCBI36]
Chr16:16p13.3		 pathogenic
NM_001042371.2(PGP):c.663C>T (p.Ala221=) single nucleotide variant Malignant melanoma [RCV000062999] Chr16:2214031 [GRCh38]
Chr16:2264032 [GRCh37]
Chr16:2204033 [NCBI36]
Chr16:16p13.3		 not provided
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:2188712-2580690)x4 copy number gain See cases [RCV000240524] Chr16:2188712..2580690 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:2213879-2348394)x3 copy number gain See cases [RCV000445898] Chr16:2213879..2348394 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:643377-3125125)x3 copy number gain See cases [RCV000510815] Chr16:643377..3125125 [GRCh37]
Chr16:16p13.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NC_000016.10:g.2077605_2284389dup duplication Endometrial carcinoma [RCV000588521] Chr16:2077605..2284389 [GRCh38]
Chr16:2127606..2334390 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
NM_182563.4(BRICD5):c.217C>T (p.Pro73Ser) single nucleotide variant Inborn genetic diseases [RCV003251402] Chr16:2210245 [GRCh38]
Chr16:2260246 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
Single allele duplication not provided [RCV000677977] Chr16:2134202..2527088 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3 copy number gain not provided [RCV000683742] Chr16:85880..3216551 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1 copy number loss not provided [RCV000683746] Chr16:1734363..2285561 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3 copy number gain not provided [RCV000683745] Chr16:1505184..4415346 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1807896-2311160)x3 copy number gain not provided [RCV000738986] Chr16:1807896..2311160 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:1813658-2319717)x3 copy number gain not provided [RCV000738989] Chr16:1813658..2319717 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2132731-2294549)x3 copy number gain not provided [RCV000738996] Chr16:2132731..2294549 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2132731-2311160)x3 copy number gain not provided [RCV000738997] Chr16:2132731..2311160 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2133701-2319717)x3 copy number gain not provided [RCV000738998] Chr16:2133701..2319717 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2140554-2311160)x3 copy number gain not provided [RCV000739001] Chr16:2140554..2311160 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2142103-2311160)x3 copy number gain not provided [RCV000739003] Chr16:2142103..2311160 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2142976-2311160)x3 copy number gain not provided [RCV000739004] Chr16:2142976..2311160 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2215858-2324303)x1 copy number loss not provided [RCV000739006] Chr16:2215858..2324303 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2130190-2301527)x3 copy number gain not provided [RCV000751524] Chr16:2130190..2301527 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2130190-2311160)x3 copy number gain not provided [RCV000751525] Chr16:2130190..2311160 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2130190-2319717)x3 copy number gain not provided [RCV000751526] Chr16:2130190..2319717 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2130259-2319717)x3 copy number gain not provided [RCV000751528] Chr16:2130259..2319717 [GRCh37]
Chr16:16p13.3		 benign
NC_000016.9:g.(?_624055)_(2550979_?)dup duplication Idiopathic generalized epilepsy [RCV001033790] Chr16:624055..2550979 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:109978-4316797) copy number gain Chromosome 16p13.3 duplication syndrome [RCV000767731] Chr16:109978..4316797 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_182563.4(BRICD5):c.212C>T (p.Pro71Leu) single nucleotide variant Inborn genetic diseases [RCV003245301] Chr16:2210250 [GRCh38]
Chr16:2260251 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:2070917-2592737)x3 copy number gain not provided [RCV000845878] Chr16:2070917..2592737 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:1942430-2653144)x3 copy number gain not provided [RCV002473837] Chr16:1942430..2653144 [GRCh37]
Chr16:16p13.3		 uncertain significance
Single allele deletion Autosomal dominant polycystic kidney disease [RCV001256004] Chr16:2157801..2288100 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_2098597)_(2550979_?)dup duplication Developmental and epileptic encephalopathy, 1 [RCV001308310] Chr16:2098597..2550979 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3 copy number gain not provided [RCV001827737] Chr16:1830141..2592737 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:1847662-2653144) copy number gain not specified [RCV002052502] Chr16:1847662..2653144 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(4852572_?)dup duplication Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] Chr16:256302..4852572 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.2066081_2241220del deletion Tuberous sclerosis 2 [RCV002267196] Chr16:2066081..2241220 [GRCh38]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.10:g.2047157_2220112del deletion Tuberous sclerosis 2 [RCV002267195] Chr16:2047157..2220112 [GRCh38]
Chr16:16p13.3		 pathogenic
NM_182563.4(BRICD5):c.250G>A (p.Val84Met) single nucleotide variant Inborn genetic diseases [RCV003012966] Chr16:2210212 [GRCh38]
Chr16:2260213 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:2021144-2266791)x1 copy number loss not provided [RCV002472534] Chr16:2021144..2266791 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_182563.4(BRICD5):c.416G>A (p.Arg139Gln) single nucleotide variant Inborn genetic diseases [RCV002748970] Chr16:2209972 [GRCh38]
Chr16:2259973 [GRCh37]
Chr16:16p13.3		 likely benign
NM_182563.4(BRICD5):c.28C>T (p.Arg10Cys) single nucleotide variant Inborn genetic diseases [RCV002683554] Chr16:2210806 [GRCh38]
Chr16:2260807 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_182563.4(BRICD5):c.194C>T (p.Thr65Met) single nucleotide variant Inborn genetic diseases [RCV002981267] Chr16:2210268 [GRCh38]
Chr16:2260269 [GRCh37]
Chr16:16p13.3		 likely benign
NM_182563.4(BRICD5):c.590A>C (p.Glu197Ala) single nucleotide variant Inborn genetic diseases [RCV002889032] Chr16:2209555 [GRCh38]
Chr16:2259556 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_182563.4(BRICD5):c.625A>G (p.Ile209Val) single nucleotide variant Inborn genetic diseases [RCV002738929] Chr16:2209424 [GRCh38]
Chr16:2259425 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_182563.4(BRICD5):c.403C>T (p.Arg135Trp) single nucleotide variant Inborn genetic diseases [RCV002930251] Chr16:2209985 [GRCh38]
Chr16:2259986 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_182563.4(BRICD5):c.352C>T (p.Arg118Cys) single nucleotide variant Inborn genetic diseases [RCV002709573] Chr16:2210036 [GRCh38]
Chr16:2260037 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_182563.4(BRICD5):c.607C>T (p.Arg203Trp) single nucleotide variant Inborn genetic diseases [RCV002665487] Chr16:2209442 [GRCh38]
Chr16:2259443 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_182563.4(BRICD5):c.203T>C (p.Met68Thr) single nucleotide variant Inborn genetic diseases [RCV002747305] Chr16:2210259 [GRCh38]
Chr16:2260260 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_182563.4(BRICD5):c.644G>A (p.Ser215Asn) single nucleotide variant Inborn genetic diseases [RCV002920750] Chr16:2209405 [GRCh38]
Chr16:2259406 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_182563.4(BRICD5):c.263G>A (p.Arg88Gln) single nucleotide variant Inborn genetic diseases [RCV003189327] Chr16:2210199 [GRCh38]
Chr16:2260200 [GRCh37]
Chr16:16p13.3		 likely benign
NM_182563.4(BRICD5):c.560G>A (p.Arg187Lys) single nucleotide variant Inborn genetic diseases [RCV003184466] Chr16:2209585 [GRCh38]
Chr16:2259586 [GRCh37]
Chr16:16p13.3		 likely benign
NM_182563.4(BRICD5):c.311G>C (p.Trp104Ser) single nucleotide variant Inborn genetic diseases [RCV003174080] Chr16:2210151 [GRCh38]
Chr16:2260152 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_182563.4(BRICD5):c.220C>A (p.His74Asn) single nucleotide variant Inborn genetic diseases [RCV003356987] Chr16:2210242 [GRCh38]
Chr16:2260243 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_182563.4(BRICD5):c.232C>T (p.Pro78Ser) single nucleotide variant Inborn genetic diseases [RCV003344765] Chr16:2210230 [GRCh38]
Chr16:2260231 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3 copy number gain not provided [RCV003485080] Chr16:1054247..2592737 [GRCh37]
Chr16:16p13.3		 likely pathogenic
GRCh37/hg19 16p13.3(chr16:2130809-2285561)x1 copy number loss not specified [RCV003987202] Chr16:2130809..2285561 [GRCh37]
Chr16:16p13.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1619
Count of miRNA genes:675
Interacting mature miRNAs:804
Transcripts:ENST00000328540, ENST00000562360, ENST00000566018, ENST00000566795
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
WIAF-1628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37162,262,011 - 2,262,184UniSTSGRCh37
Build 36162,202,012 - 2,202,185RGDNCBI36
Celera162,476,429 - 2,476,602RGD
Cytogenetic Map16p13.3UniSTS
HuRef162,188,189 - 2,188,362UniSTS
GeneMap99-GB4 RH Map1648.72UniSTS
G60043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37162,262,006 - 2,262,308UniSTSGRCh37
Build 36162,202,007 - 2,202,309RGDNCBI36
Celera162,476,424 - 2,476,726RGD
Cytogenetic Map16p13.3UniSTS
HuRef162,188,184 - 2,188,486UniSTS
TNG Radiation Hybrid Map16898.0UniSTS
D16S2568E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37162,262,005 - 2,262,193UniSTSGRCh37
Build 36162,202,006 - 2,202,194RGDNCBI36
Celera162,476,423 - 2,476,611RGD
Cytogenetic Map16p13.3UniSTS
HuRef162,188,183 - 2,188,371UniSTS
STS-W72364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37162,259,224 - 2,259,408UniSTSGRCh37
Build 36162,199,225 - 2,199,409RGDNCBI36
Celera162,473,641 - 2,473,825RGD
Cytogenetic Map16p13.3UniSTS
HuRef162,185,402 - 2,185,586UniSTS
GeneMap99-GB4 RH Map1662.83UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1259 1059 1020 49 627 22 1243 803 2823 100 990 1219 29 180 1055
Low 1170 1920 695 565 1312 434 3107 1388 885 311 457 383 141 1024 1733 4
Below cutoff 3 5 8 8 6 8 5 2 7 1 5

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000328540   ⟹   ENSP00000332389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,209,253 - 2,210,863 (-)Ensembl
RefSeq Acc Id: ENST00000562360   ⟹   ENSP00000455052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,209,362 - 2,210,833 (-)Ensembl
RefSeq Acc Id: ENST00000566018   ⟹   ENSP00000457969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,209,979 - 2,210,905 (-)Ensembl
RefSeq Acc Id: ENST00000566795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,209,654 - 2,210,145 (-)Ensembl
RefSeq Acc Id: NM_182563   ⟹   NP_872369
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,209,253 - 2,210,863 (-)NCBI
GRCh37162,259,254 - 2,263,541 (-)NCBI
Build 36162,199,255 - 2,201,012 (-)NCBI Archive
Celera162,473,671 - 2,475,428 (-)RGD
HuRef162,185,432 - 2,187,247 (-)ENTREZGENE
CHM1_1162,259,180 - 2,260,995 (-)NCBI
T2T-CHM13v2.0162,231,710 - 2,233,320 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047433958   ⟹   XP_047289914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,209,253 - 2,210,863 (-)NCBI
RefSeq Acc Id: XM_047433959   ⟹   XP_047289915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,209,253 - 2,210,863 (-)NCBI
RefSeq Acc Id: XM_054380113   ⟹   XP_054236088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0162,231,710 - 2,233,273 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_872369   ⟸   NM_182563
- UniProtKB: Q6PL45 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000455052   ⟸   ENST00000562360
RefSeq Acc Id: ENSP00000332389   ⟸   ENST00000328540
RefSeq Acc Id: ENSP00000457969   ⟸   ENST00000566018
RefSeq Acc Id: XP_047289914   ⟸   XM_047433958
- Peptide Label: isoform X1
- UniProtKB: Q6PL45 (UniProtKB/Swiss-Prot),   C9J7K2 (UniProtKB/Swiss-Prot),   Q8IXU9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047289915   ⟸   XM_047433959
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054236088   ⟸   XM_054380113
- Peptide Label: isoform X2
Protein Domains
BRICHOS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6PL45-F1-model_v2 AlphaFold Q6PL45 1-260 view protein structure

Promoters
RGD ID:6792739
Promoter ID:HG_KWN:22783
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000250769,   UC010BSH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36162,200,801 - 2,202,232 (-)MPROMDB
RGD ID:7231007
Promoter ID:EPDNEW_H21249
Type:initiation region
Name:BRICD5_1
Description:BRICHOS domain containing 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,212,042 - 2,212,102EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28309 AgrOrtholog
COSMIC BRICD5 COSMIC
Ensembl Genes ENSG00000182685 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000328540 ENTREZGENE
  ENST00000328540.8 UniProtKB/Swiss-Prot
  ENST00000562360 ENTREZGENE
  ENST00000562360.5 UniProtKB/Swiss-Prot
  ENST00000566018.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.390.150 UniProtKB/Swiss-Prot
GTEx ENSG00000182685 GTEx
HGNC ID HGNC:28309 ENTREZGENE
Human Proteome Map BRICD5 Human Proteome Map
InterPro BRICHOS_dom UniProtKB/Swiss-Prot
KEGG Report hsa:283870 UniProtKB/Swiss-Prot
NCBI Gene 283870 ENTREZGENE
PANTHER BRICHOS DOMAIN-CONTAINING PROTEIN 5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GASTROKINE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BRICHOS UniProtKB/Swiss-Prot
PharmGKB PA162378367 PharmGKB
PROSITE BRICHOS UniProtKB/Swiss-Prot
SMART BRICHOS UniProtKB/Swiss-Prot
UniProt BRID5_HUMAN UniProtKB/Swiss-Prot
  C9J7K2 ENTREZGENE
  H3BV65_HUMAN UniProtKB/TrEMBL
  Q6PL45 ENTREZGENE
  Q8IXU9 ENTREZGENE
UniProt Secondary C9J7K2 UniProtKB/Swiss-Prot
  Q8IXU9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-10-16 BRICD5  BRICHOS domain containing 5  C16orf79  chromosome 16 open reading frame 79  Symbol and/or name change 5135510 APPROVED