SOBP (sine oculis binding protein homolog) - Rat Genome Database

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Gene: SOBP (sine oculis binding protein homolog) Homo sapiens
Analyze
Symbol: SOBP
Name: sine oculis binding protein homolog
RGD ID: 1605982
HGNC Page HGNC:29256
Description: Predicted to enable SUMO polymer binding activity and zinc ion binding activity. Involved in cognition. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ10159; jackson circler protein 1; JXC1; MRAMS; sine oculis-binding protein homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386107,490,117 - 107,661,306 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6107,490,106 - 107,661,306 (+)EnsemblGRCh38hg38GRCh38
GRCh376107,811,321 - 107,982,510 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366107,918,010 - 108,089,206 (+)NCBINCBI36Build 36hg18NCBI36
Celera6108,559,766 - 108,731,020 (+)NCBICelera
Cytogenetic Map6q21NCBI
HuRef6105,382,294 - 105,553,438 (+)NCBIHuRef
CHM1_16108,074,040 - 108,245,206 (+)NCBICHM1_1
T2T-CHM13v2.06108,669,050 - 108,840,201 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
allethrin  (ISO)
alpha-Zearalanol  (ISO)
amitrole  (ISO)
antirheumatic drug  (EXP)
benzo[a]pyrene  (EXP)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
buta-1,3-diene  (ISO)
butanal  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
choline  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
cyhalothrin  (ISO)
cypermethrin  (ISO)
dexamethasone  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
ethanol  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
FR900359  (EXP)
gentamycin  (ISO)
indometacin  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
levonorgestrel  (EXP)
mercury dibromide  (EXP)
methapyrilene  (EXP)
methimazole  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
nickel atom  (EXP)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (ISO)
phenylmercury acetate  (EXP)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
pyrethrins  (ISO)
quercetin  (EXP)
resveratrol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone undecanoate  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleus  (IBA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:14702039   PMID:16169070   PMID:20379614   PMID:21035105   PMID:21873635   PMID:21900206   PMID:23086935   PMID:28611215   PMID:29120074   PMID:29507755  
PMID:31686349   PMID:33742531   PMID:33784000   PMID:35140242   PMID:35271311   PMID:37026617   PMID:38297188   PMID:38360978  


Genomics

Comparative Map Data
SOBP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386107,490,117 - 107,661,306 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6107,490,106 - 107,661,306 (+)EnsemblGRCh38hg38GRCh38
GRCh376107,811,321 - 107,982,510 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366107,918,010 - 108,089,206 (+)NCBINCBI36Build 36hg18NCBI36
Celera6108,559,766 - 108,731,020 (+)NCBICelera
Cytogenetic Map6q21NCBI
HuRef6105,382,294 - 105,553,438 (+)NCBIHuRef
CHM1_16108,074,040 - 108,245,206 (+)NCBICHM1_1
T2T-CHM13v2.06108,669,050 - 108,840,201 (+)NCBIT2T-CHM13v2.0
Sobp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391042,878,484 - 43,059,144 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1042,878,496 - 43,050,526 (-)EnsemblGRCm39 Ensembl
GRCm381043,002,488 - 43,183,139 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1043,002,500 - 43,174,530 (-)EnsemblGRCm38mm10GRCm38
MGSCv371042,722,306 - 42,894,336 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361042,709,403 - 42,862,624 (-)NCBIMGSCv36mm8
Celera1043,869,724 - 44,040,986 (-)NCBICelera
Cytogenetic Map10B2NCBI
cM Map1022.89NCBI
Sobp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82048,064,445 - 48,243,607 (-)NCBIGRCr8
mRatBN7.22046,482,265 - 46,661,452 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2046,482,765 - 46,663,541 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2048,218,691 - 48,378,244 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02047,868,868 - 48,028,261 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02048,554,915 - 48,713,122 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02047,731,713 - 47,910,466 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2047,750,762 - 47,910,375 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02049,392,717 - 49,571,453 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42046,918,487 - 47,079,823 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2053,318,595 - 53,477,647 (+)NCBICelera
Cytogenetic Map20q13NCBI
Sobp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541132,745,235 - 32,881,138 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541132,745,029 - 32,898,570 (+)NCBIChiLan1.0ChiLan1.0
SOBP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25127,508,131 - 127,653,487 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16125,398,165 - 125,543,409 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06105,302,531 - 105,472,674 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16109,168,069 - 109,337,549 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6109,168,069 - 109,337,549 (+)Ensemblpanpan1.1panPan2
SOBP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11264,653,814 - 64,794,144 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1264,664,288 - 64,794,358 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1264,437,857 - 64,600,059 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01265,495,687 - 65,658,309 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1265,495,190 - 65,657,997 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11264,853,883 - 65,014,980 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01264,699,469 - 64,861,386 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01264,972,924 - 65,135,154 (+)NCBIUU_Cfam_GSD_1.0
Sobp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494699,580,809 - 99,727,629 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365643,855,672 - 3,982,401 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365643,855,526 - 4,000,809 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SOBP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl173,549,307 - 73,702,020 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1173,549,778 - 73,722,689 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2182,785,729 - 82,958,188 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SOBP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11366,202,747 - 66,374,992 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1366,227,944 - 66,374,736 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604038,527,901 - 38,699,086 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sobp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478014,616,469 - 14,773,237 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478014,618,283 - 14,773,190 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SOBP
142 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_018013.4(SOBP):c.1981C>T (p.Arg661Ter) single nucleotide variant Intellectual disability, anterior maxillary protrusion, and strabismus [RCV000000003] Chr6:107634825 [GRCh38]
Chr6:107956029 [GRCh37]
Chr6:6q21		 pathogenic|no classifications from unflagged records
NM_018013.3(SOBP):c.670-14985G>T single nucleotide variant Lung cancer [RCV000096422] Chr6:107618529 [GRCh38]
Chr6:107939733 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1382A>C (p.His461Pro) single nucleotide variant not provided [RCV004704868]|not specified [RCV000118395] Chr6:107634226 [GRCh38]
Chr6:107955430 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.1810C>A (p.Gln604Lys) single nucleotide variant Intellectual disability, anterior maxillary protrusion, and strabismus [RCV001333984]|not provided [RCV000118396] Chr6:107634654 [GRCh38]
Chr6:107955858 [GRCh37]
Chr6:6q21		 conflicting interpretations of pathogenicity|uncertain significance
NM_018013.4(SOBP):c.1905C>T (p.Gly635=) single nucleotide variant not provided [RCV000118397] Chr6:107634749 [GRCh38]
Chr6:107955953 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1615A>G (p.Ile539Val) single nucleotide variant not provided [RCV000427101]|not specified [RCV000118398] Chr6:107634459 [GRCh38]
Chr6:107955663 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_018013.4(SOBP):c.2047A>G (p.Ser683Gly) single nucleotide variant Intellectual disability, anterior maxillary protrusion, and strabismus [RCV001808344]|not specified [RCV000118399] Chr6:107634891 [GRCh38]
Chr6:107956095 [GRCh37]
Chr6:6q21		 benign
NM_018013.4(SOBP):c.319A>G (p.Thr107Ala) single nucleotide variant not provided [RCV000514284]|not specified [RCV000118400] Chr6:107506325 [GRCh38]
Chr6:107827529 [GRCh37]
Chr6:6q21		 benign|likely benign
GRCh38/hg38 6q21(chr6:107010730-108039165)x3 copy number gain See cases [RCV000135360] Chr6:107010730..108039165 [GRCh38]
Chr6:107331934..108360369 [GRCh37]
Chr6:107438627..108467062 [NCBI36]
Chr6:6q21		 uncertain significance
GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1 copy number loss See cases [RCV000134806] Chr6:102356502..111049879 [GRCh38]
Chr6:102804377..111371082 [GRCh37]
Chr6:102911070..111477775 [NCBI36]
Chr6:6q16.3-21		 pathogenic
GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1 copy number loss See cases [RCV000138006] Chr6:107370141..115827482 [GRCh38]
Chr6:107691345..116148646 [GRCh37]
Chr6:107798038..116255339 [NCBI36]
Chr6:6q21-22.1		 pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 copy number loss See cases [RCV000139465] Chr6:96609994..122161548 [GRCh38]
Chr6:97057870..122482694 [GRCh37]
Chr6:97164591..122524393 [NCBI36]
Chr6:6q16.1-22.31		 pathogenic
GRCh38/hg38 6q21(chr6:107445281-110547907)x1 copy number loss See cases [RCV000141382] Chr6:107445281..110547907 [GRCh38]
Chr6:107766485..110869110 [GRCh37]
Chr6:107873178..110975803 [NCBI36]
Chr6:6q21		 pathogenic
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 copy number loss See cases [RCV000141587] Chr6:106503719..125781219 [GRCh38]
Chr6:106951594..126102365 [GRCh37]
Chr6:107058287..126144058 [NCBI36]
Chr6:6q21-22.31		 pathogenic
GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1 copy number loss See cases [RCV000142287] Chr6:103279465..113934239 [GRCh38]
Chr6:103727340..114255403 [GRCh37]
Chr6:103834033..114362096 [NCBI36]
Chr6:6q16.3-21		 pathogenic
GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 copy number loss See cases [RCV000143227] Chr6:100054889..120488154 [GRCh38]
Chr6:100502765..120809300 [GRCh37]
Chr6:100609486..120850999 [NCBI36]
Chr6:6q16.3-22.31		 pathogenic
NM_018013.4(SOBP):c.1416C>A (p.Pro472=) single nucleotide variant Intellectual disability, anterior maxillary protrusion, and strabismus [RCV002500595]|not provided [RCV000897078]|not specified [RCV000192856] Chr6:107634260 [GRCh38]
Chr6:107955464 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_018013.4(SOBP):c.265G>A (p.Glu89Lys) single nucleotide variant not provided [RCV000727241]|not specified [RCV000193066] Chr6:107506271 [GRCh38]
Chr6:107827475 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2560C>G (p.Pro854Ala) single nucleotide variant not specified [RCV000194399] Chr6:107635404 [GRCh38]
Chr6:107956608 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.573+12G>A single nucleotide variant not provided [RCV004692801]|not specified [RCV000194424] Chr6:107533622 [GRCh38]
Chr6:107854826 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1321C>T (p.Pro441Ser) single nucleotide variant Intellectual disability, anterior maxillary protrusion, and strabismus [RCV000765863]|SOBP-related disorder [RCV003907707]|not specified [RCV000194833] Chr6:107634165 [GRCh38]
Chr6:107955369 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_018013.4(SOBP):c.2349C>T (p.Asp783=) single nucleotide variant not specified [RCV000194928] Chr6:107635193 [GRCh38]
Chr6:107956397 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.219C>T (p.His73=) single nucleotide variant not provided [RCV000912972]|not specified [RCV000195267] Chr6:107503779 [GRCh38]
Chr6:107824983 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_018013.4(SOBP):c.2232GCC[9] (p.Pro750_Pro751dup) microsatellite not provided [RCV004692800]|not specified [RCV000193256] Chr6:107635075..107635076 [GRCh38]
Chr6:107956279..107956280 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2232GCC[6] (p.Pro751del) microsatellite not provided [RCV000514137]|not specified [RCV000193905] Chr6:107635076..107635078 [GRCh38]
Chr6:107956280..107956282 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_018013.4(SOBP):c.2586A>T (p.Lys862Asn) single nucleotide variant not specified [RCV000192420] Chr6:107635430 [GRCh38]
Chr6:107956634 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2412G>A (p.Pro804=) single nucleotide variant not specified [RCV000193363] Chr6:107635256 [GRCh38]
Chr6:107956460 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1896C>T (p.Gly632=) single nucleotide variant not specified [RCV000193878] Chr6:107634740 [GRCh38]
Chr6:107955944 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q21(chr6:105930050-107970442)x1 copy number loss See cases [RCV000446119] Chr6:105930050..107970442 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q21(chr6:107446437-108543388)x3 copy number gain See cases [RCV000446442] Chr6:107446437..108543388 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_018013.4(SOBP):c.1530G>C (p.Gly510=) single nucleotide variant not provided [RCV000910216]|not specified [RCV000503499] Chr6:107634374 [GRCh38]
Chr6:107955578 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.1118G>T (p.Gly373Val) single nucleotide variant not specified [RCV000501454] Chr6:107633962 [GRCh38]
Chr6:107955166 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1937T>A (p.Leu646Gln) single nucleotide variant not specified [RCV000503976] Chr6:107634781 [GRCh38]
Chr6:107955985 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2291C>T (p.Ala764Val) single nucleotide variant not specified [RCV000504422] Chr6:107635135 [GRCh38]
Chr6:107956339 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_018013.4(SOBP):c.2268G>A (p.Lys756=) single nucleotide variant SOBP-related disorder [RCV003960184]|not specified [RCV000502312] Chr6:107635112 [GRCh38]
Chr6:107956316 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1 copy number loss See cases [RCV000510703] Chr6:97384446..110247755 [GRCh37]
Chr6:6q16.1-21		 pathogenic
NM_018013.4(SOBP):c.2105C>T (p.Ala702Val) single nucleotide variant not specified [RCV000500238] Chr6:107634949 [GRCh38]
Chr6:107956153 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1729C>T (p.Pro577Ser) single nucleotide variant Intellectual disability, anterior maxillary protrusion, and strabismus [RCV000765864]|not provided [RCV004691814]|not specified [RCV000502530] Chr6:107634573 [GRCh38]
Chr6:107955777 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1725C>G (p.Gly575=) single nucleotide variant not provided [RCV004808739]|not specified [RCV000500424] Chr6:107634569 [GRCh38]
Chr6:107955773 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.413C>T (p.Pro138Leu) single nucleotide variant not specified [RCV000500718] Chr6:107506419 [GRCh38]
Chr6:107827623 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1970C>G (p.Thr657Ser) single nucleotide variant not specified [RCV000503094] Chr6:107634814 [GRCh38]
Chr6:107956018 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1894G>A (p.Gly632Ser) single nucleotide variant not specified [RCV004291387] Chr6:107634738 [GRCh38]
Chr6:107955942 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.526G>A (p.Glu176Lys) single nucleotide variant not specified [RCV004320800] Chr6:107533563 [GRCh38]
Chr6:107854767 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2025C>A (p.His675Gln) single nucleotide variant not specified [RCV004312616] Chr6:107634869 [GRCh38]
Chr6:107956073 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q21(chr6:107662992-108276358)x3 copy number gain See cases [RCV000512331] Chr6:107662992..108276358 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1 copy number loss See cases [RCV000512470] Chr6:94202605..109878834 [GRCh37]
Chr6:6q16.1-21		 pathogenic
GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1 copy number loss not provided [RCV000682693] Chr6:95549951..116684929 [GRCh37]
Chr6:6q16.1-22.1		 pathogenic
GRCh37/hg19 6q21(chr6:107413933-107875070)x3 copy number gain not provided [RCV000682704] Chr6:107413933..107875070 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q21(chr6:107947938-108184564)x1 copy number loss not provided [RCV000682705] Chr6:107947938..108184564 [GRCh37]
Chr6:6q21		 uncertain significance
NC_000006.12:g.107174371_107825273del deletion not provided [RCV000677972] Chr6:107174371..107825273 [GRCh38]
Chr6:107388471..108146477 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_018013.4(SOBP):c.282A>G (p.Ser94=) single nucleotide variant not provided [RCV000895721] Chr6:107506288 [GRCh38]
Chr6:107827492 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.976C>T (p.Pro326Ser) single nucleotide variant not provided [RCV000762428] Chr6:107633820 [GRCh38]
Chr6:107955024 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.980C>T (p.Ser327Leu) single nucleotide variant not provided [RCV000762429] Chr6:107633824 [GRCh38]
Chr6:107955028 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2433C>T (p.Asp811=) single nucleotide variant not provided [RCV000925622] Chr6:107635277 [GRCh38]
Chr6:107956481 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.1888CCCCCGGGC[3] (p.630PPG[3]) microsatellite not provided [RCV000948739]|not specified [RCV001818945] Chr6:107634729..107634730 [GRCh38]
Chr6:107955933..107955934 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_018013.4(SOBP):c.1398C>A (p.Pro466=) single nucleotide variant not provided [RCV000975962] Chr6:107634242 [GRCh38]
Chr6:107955446 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.1920C>G (p.Leu640=) single nucleotide variant not provided [RCV000927035] Chr6:107634764 [GRCh38]
Chr6:107955968 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.2409C>T (p.Asp803=) single nucleotide variant not provided [RCV000882281] Chr6:107635253 [GRCh38]
Chr6:107956457 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.38A>G (p.Asn13Ser) single nucleotide variant not provided [RCV000981528] Chr6:107490654 [GRCh38]
Chr6:107811858 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.2463G>C (p.Leu821=) single nucleotide variant not provided [RCV000960887] Chr6:107635307 [GRCh38]
Chr6:107956511 [GRCh37]
Chr6:6q21		 benign
NM_018013.4(SOBP):c.1500G>T (p.Pro500=) single nucleotide variant not provided [RCV000936622] Chr6:107634344 [GRCh38]
Chr6:107955548 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.960A>G (p.Gln320=) single nucleotide variant not provided [RCV000918864] Chr6:107633804 [GRCh38]
Chr6:107955008 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.1797C>T (p.Pro599=) single nucleotide variant not provided [RCV000904934] Chr6:107634641 [GRCh38]
Chr6:107955845 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.2256G>A (p.Ala752=) single nucleotide variant not provided [RCV000938574] Chr6:107635100 [GRCh38]
Chr6:107956304 [GRCh37]
Chr6:6q21		 likely benign
GRCh37/hg19 6q21(chr6:107925558-108220556)x3 copy number gain not provided [RCV000846219] Chr6:107925558..108220556 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1753C>T (p.Arg585Trp) single nucleotide variant not specified [RCV004301081] Chr6:107634597 [GRCh38]
Chr6:107955801 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2133G>A (p.Pro711=) single nucleotide variant not provided [RCV000933184] Chr6:107634977 [GRCh38]
Chr6:107956181 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.813T>A (p.Leu271=) single nucleotide variant not provided [RCV000940653] Chr6:107633657 [GRCh38]
Chr6:107954861 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.399A>G (p.Pro133=) single nucleotide variant not provided [RCV000940048] Chr6:107506405 [GRCh38]
Chr6:107827609 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.2253C>T (p.Pro751=) single nucleotide variant not provided [RCV000911071] Chr6:107635097 [GRCh38]
Chr6:107956301 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.24G>C (p.Gly8=) single nucleotide variant not provided [RCV000933953] Chr6:107490640 [GRCh38]
Chr6:107811844 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.1747T>C (p.Ser583Pro) single nucleotide variant not provided [RCV000889437]|not specified [RCV001818653] Chr6:107634591 [GRCh38]
Chr6:107955795 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_018013.4(SOBP):c.2232GCC[8] (p.Pro751dup) microsatellite SOBP-related disorder [RCV003940642]|not provided [RCV000889582]|not specified [RCV001818654] Chr6:107635075..107635076 [GRCh38]
Chr6:107956279..107956280 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_018013.4(SOBP):c.1593G>A (p.Val531=) single nucleotide variant not provided [RCV000935024] Chr6:107634437 [GRCh38]
Chr6:107955641 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.1584C>G (p.Pro528=) single nucleotide variant not provided [RCV001200480] Chr6:107634428 [GRCh38]
Chr6:107955632 [GRCh37]
Chr6:6q21		 likely benign
GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3 copy number gain Microcephaly [RCV001251053] Chr6:101296547..117004249 [GRCh37]
Chr6:6q16.3-22.1		 pathogenic
GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1 copy number loss Deletion 6q16 q21 [RCV001263224] Chr6:98949950..114533905 [GRCh37]
Chr6:6q16.1-21		 pathogenic
NM_018013.4(SOBP):c.574-3C>T single nucleotide variant Intellectual disability, anterior maxillary protrusion, and strabismus [RCV001333986] Chr6:107587077 [GRCh38]
Chr6:107908281 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.415C>T (p.Pro139Ser) single nucleotide variant Intellectual disability, anterior maxillary protrusion, and strabismus [RCV001333985]|not specified [RCV004035773] Chr6:107506421 [GRCh38]
Chr6:107827625 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q21(chr6:107331934-108121759) copy number loss Autism [RCV001352650] Chr6:107331934..108121759 [GRCh37]
Chr6:6q21		 pathogenic
NM_018013.4(SOBP):c.2163C>A (p.Asn721Lys) single nucleotide variant Intellectual disability, anterior maxillary protrusion, and strabismus [RCV001291816] Chr6:107635007 [GRCh38]
Chr6:107956211 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2232GCC[4] (p.Pro749_Pro751del) microsatellite SOBP-related disorder [RCV003911028]|not specified [RCV001817211] Chr6:107635076..107635084 [GRCh38]
Chr6:107956280..107956288 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.414A>G (p.Pro138=) single nucleotide variant not specified [RCV001817238] Chr6:107506420 [GRCh38]
Chr6:107827624 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1116C>T (p.Ile372=) single nucleotide variant not specified [RCV001819460] Chr6:107633960 [GRCh38]
Chr6:107955164 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1549C>T (p.Leu517=) single nucleotide variant not provided [RCV004809286] Chr6:107634393 [GRCh38]
Chr6:107955597 [GRCh37]
Chr6:6q21		 likely benign
GRCh37/hg19 6q15-22.2(chr6:92054891-118329651) copy number loss not specified [RCV002053598] Chr6:92054891..118329651 [GRCh37]
Chr6:6q15-22.2		 pathogenic
GRCh37/hg19 6q21(chr6:107446437-108543388) copy number gain not specified [RCV002053607] Chr6:107446437..108543388 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687) copy number loss not specified [RCV002053595] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 pathogenic
GRCh37/hg19 6q21(chr6:105930050-107970442) copy number loss not specified [RCV002053605] Chr6:105930050..107970442 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.622G>A (p.Ala208Thr) single nucleotide variant Intellectual disability, anterior maxillary protrusion, and strabismus [RCV002227808]|not specified [RCV004047254] Chr6:107587128 [GRCh38]
Chr6:107908332 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2502C>G (p.Pro834=) single nucleotide variant not provided [RCV002214406] Chr6:107635346 [GRCh38]
Chr6:107956550 [GRCh37]
Chr6:6q21		 likely benign
NC_000006.11:g.(?_107019871)_(110266416_?)del deletion Charcot-Marie-Tooth disease type 4 [RCV003116781]|not provided [RCV003116782] Chr6:107019871..110266416 [GRCh37]
Chr6:6q21		 pathogenic|uncertain significance|no classifications from unflagged records
NM_018013.4(SOBP):c.1691C>G (p.Pro564Arg) single nucleotide variant not specified [RCV004310295] Chr6:107634535 [GRCh38]
Chr6:107955739 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1748C>A (p.Ser583Tyr) single nucleotide variant not specified [RCV004124739] Chr6:107634592 [GRCh38]
Chr6:107955796 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1788C>G (p.Asp596Glu) single nucleotide variant not specified [RCV004105001] Chr6:107634632 [GRCh38]
Chr6:107955836 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.444A>C (p.Gln148His) single nucleotide variant not specified [RCV004100157] Chr6:107533481 [GRCh38]
Chr6:107854685 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2260C>T (p.Pro754Ser) single nucleotide variant SOBP-related disorder [RCV003906605]|not provided [RCV003427645]|not specified [RCV004190733] Chr6:107635104 [GRCh38]
Chr6:107956308 [GRCh37]
Chr6:6q21		 benign|uncertain significance
NM_018013.4(SOBP):c.922C>G (p.Arg308Gly) single nucleotide variant not specified [RCV004100947] Chr6:107633766 [GRCh38]
Chr6:107954970 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1917G>C (p.Gln639His) single nucleotide variant not specified [RCV004236489] Chr6:107634761 [GRCh38]
Chr6:107955965 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.631A>G (p.Thr211Ala) single nucleotide variant not specified [RCV004157518] Chr6:107587137 [GRCh38]
Chr6:107908341 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1384C>T (p.Pro462Ser) single nucleotide variant not specified [RCV004101827] Chr6:107634228 [GRCh38]
Chr6:107955432 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.458G>C (p.Trp153Ser) single nucleotide variant not specified [RCV004233405] Chr6:107533495 [GRCh38]
Chr6:107854699 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2144A>C (p.Glu715Ala) single nucleotide variant not specified [RCV004233456] Chr6:107634988 [GRCh38]
Chr6:107956192 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1960A>T (p.Ile654Phe) single nucleotide variant not specified [RCV004082563] Chr6:107634804 [GRCh38]
Chr6:107956008 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2486A>G (p.Gln829Arg) single nucleotide variant not specified [RCV004102420] Chr6:107635330 [GRCh38]
Chr6:107956534 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1739A>G (p.His580Arg) single nucleotide variant not specified [RCV004234047] Chr6:107634583 [GRCh38]
Chr6:107955787 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2051C>T (p.Ala684Val) single nucleotide variant not specified [RCV004144323] Chr6:107634895 [GRCh38]
Chr6:107956099 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1273C>A (p.Pro425Thr) single nucleotide variant not specified [RCV004121137] Chr6:107634117 [GRCh38]
Chr6:107955321 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1078A>C (p.Asn360His) single nucleotide variant not specified [RCV004150259] Chr6:107633922 [GRCh38]
Chr6:107955126 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2189C>G (p.Ala730Gly) single nucleotide variant not specified [RCV004203375] Chr6:107635033 [GRCh38]
Chr6:107956237 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.539C>T (p.Ala180Val) single nucleotide variant not specified [RCV004148034] Chr6:107533576 [GRCh38]
Chr6:107854780 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1734C>A (p.Ser578Arg) single nucleotide variant not specified [RCV004176462] Chr6:107634578 [GRCh38]
Chr6:107955782 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2005C>T (p.His669Tyr) single nucleotide variant not specified [RCV004182753] Chr6:107634849 [GRCh38]
Chr6:107956053 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.931G>T (p.Ala311Ser) single nucleotide variant not specified [RCV004094880] Chr6:107633775 [GRCh38]
Chr6:107954979 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.639G>T (p.Arg213Ser) single nucleotide variant not specified [RCV004268946] Chr6:107587145 [GRCh38]
Chr6:107908349 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2189C>T (p.Ala730Val) single nucleotide variant not specified [RCV004276061] Chr6:107635033 [GRCh38]
Chr6:107956237 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1895G>C (p.Gly632Ala) single nucleotide variant not specified [RCV004265516] Chr6:107634739 [GRCh38]
Chr6:107955943 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1117G>C (p.Gly373Arg) single nucleotide variant not specified [RCV004269264] Chr6:107633961 [GRCh38]
Chr6:107955165 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2057A>G (p.Glu686Gly) single nucleotide variant not specified [RCV004267120] Chr6:107634901 [GRCh38]
Chr6:107956105 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1712C>T (p.Ala571Val) single nucleotide variant not specified [RCV004335073] Chr6:107634556 [GRCh38]
Chr6:107955760 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2349C>G (p.Asp783Glu) single nucleotide variant not specified [RCV004363820] Chr6:107635193 [GRCh38]
Chr6:107956397 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1760C>T (p.Ser587Phe) single nucleotide variant not specified [RCV004342243] Chr6:107634604 [GRCh38]
Chr6:107955808 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1209C>T (p.Ile403=) single nucleotide variant not provided [RCV003457478] Chr6:107634053 [GRCh38]
Chr6:107955257 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.47G>A (p.Ser16Asn) single nucleotide variant not provided [RCV003431981] Chr6:107490663 [GRCh38]
Chr6:107811867 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1419A>C (p.Pro473=) single nucleotide variant not provided [RCV003431982] Chr6:107634263 [GRCh38]
Chr6:107955467 [GRCh37]
Chr6:6q21		 likely benign
GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1 copy number loss not provided [RCV003482928] Chr6:92468126..109410569 [GRCh37]
Chr6:6q15-21		 pathogenic
NM_018013.4(SOBP):c.1893G>A (p.Pro631=) single nucleotide variant not provided [RCV003428917] Chr6:107634737 [GRCh38]
Chr6:107955941 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.1947G>A (p.Pro649=) single nucleotide variant not provided [RCV003428918] Chr6:107634791 [GRCh38]
Chr6:107955995 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.45G>C (p.Arg15=) single nucleotide variant not provided [RCV003428916] Chr6:107490661 [GRCh38]
Chr6:107811865 [GRCh37]
Chr6:6q21		 likely benign
GRCh37/hg19 6q21(chr6:107876812-109065741)x3 copy number gain not specified [RCV003986649] Chr6:107876812..109065741 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1947G>T (p.Pro649=) single nucleotide variant SOBP-related disorder [RCV003939589] Chr6:107634791 [GRCh38]
Chr6:107955995 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.1389G>C (p.Pro463=) single nucleotide variant not provided [RCV003992971] Chr6:107634233 [GRCh38]
Chr6:107955437 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.2289G>C (p.Pro763=) single nucleotide variant SOBP-related disorder [RCV003903820] Chr6:107635133 [GRCh38]
Chr6:107956337 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.2292G>A (p.Ala764=) single nucleotide variant SOBP-related disorder [RCV003937361] Chr6:107635136 [GRCh38]
Chr6:107956340 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.1516A>G (p.Met506Val) single nucleotide variant not specified [RCV004464746] Chr6:107634360 [GRCh38]
Chr6:107955564 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2000T>G (p.Val667Gly) single nucleotide variant not specified [RCV004464747] Chr6:107634844 [GRCh38]
Chr6:107956048 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.416C>A (p.Pro139Gln) single nucleotide variant not specified [RCV004464754] Chr6:107506422 [GRCh38]
Chr6:107827626 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1472C>T (p.Pro491Leu) single nucleotide variant not specified [RCV004464745] Chr6:107634316 [GRCh38]
Chr6:107955520 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.889C>T (p.Pro297Ser) single nucleotide variant not specified [RCV004464755] Chr6:107633733 [GRCh38]
Chr6:107954937 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.242C>G (p.Ser81Cys) single nucleotide variant not specified [RCV004464752] Chr6:107506248 [GRCh38]
Chr6:107827452 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1154T>C (p.Met385Thr) single nucleotide variant not specified [RCV004464742] Chr6:107633998 [GRCh38]
Chr6:107955202 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1396C>A (p.Pro466Thr) single nucleotide variant not specified [RCV004464743] Chr6:107634240 [GRCh38]
Chr6:107955444 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2267A>G (p.Lys756Arg) single nucleotide variant not specified [RCV004464751] Chr6:107635111 [GRCh38]
Chr6:107956315 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2086G>A (p.Gly696Ser) single nucleotide variant not specified [RCV004464749] Chr6:107634930 [GRCh38]
Chr6:107956134 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.32C>A (p.Pro11His) single nucleotide variant not specified [RCV004464753] Chr6:107490648 [GRCh38]
Chr6:107811852 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1052A>G (p.Lys351Arg) single nucleotide variant not specified [RCV004464741] Chr6:107633896 [GRCh38]
Chr6:107955100 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1445G>C (p.Gly482Ala) single nucleotide variant not specified [RCV004464744] Chr6:107634289 [GRCh38]
Chr6:107955493 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2044C>T (p.Pro682Ser) single nucleotide variant not specified [RCV004464748] Chr6:107634888 [GRCh38]
Chr6:107956092 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2255C>T (p.Ala752Val) single nucleotide variant not specified [RCV004464750] Chr6:107635099 [GRCh38]
Chr6:107956303 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.976C>G (p.Pro326Ala) single nucleotide variant not specified [RCV004670461] Chr6:107633820 [GRCh38]
Chr6:107955024 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2020G>A (p.Ala674Thr) single nucleotide variant not specified [RCV004670462] Chr6:107634864 [GRCh38]
Chr6:107956068 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.196A>G (p.Thr66Ala) single nucleotide variant not specified [RCV004670463] Chr6:107503756 [GRCh38]
Chr6:107824960 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2027T>G (p.Val676Gly) single nucleotide variant not specified [RCV004670464] Chr6:107634871 [GRCh38]
Chr6:107956075 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1840G>A (p.Glu614Lys) single nucleotide variant not specified [RCV004670465] Chr6:107634684 [GRCh38]
Chr6:107955888 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2261C>G (p.Pro754Arg) single nucleotide variant not specified [RCV004679161] Chr6:107635105 [GRCh38]
Chr6:107956309 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1034T>G (p.Ile345Ser) single nucleotide variant not specified [RCV004679162] Chr6:107633878 [GRCh38]
Chr6:107955082 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1266C>G (p.Pro422=) single nucleotide variant not provided [RCV004811254] Chr6:107634110 [GRCh38]
Chr6:107955314 [GRCh37]
Chr6:6q21		 likely benign
NM_018013.4(SOBP):c.2224C>T (p.Pro742Ser) single nucleotide variant not specified [RCV004864836] Chr6:107635068 [GRCh38]
Chr6:107956272 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1303G>C (p.Gly435Arg) single nucleotide variant not specified [RCV004864837] Chr6:107634147 [GRCh38]
Chr6:107955351 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2239C>T (p.Pro747Ser) single nucleotide variant not specified [RCV004864838] Chr6:107635083 [GRCh38]
Chr6:107956287 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2434G>A (p.Glu812Lys) single nucleotide variant not specified [RCV004864839] Chr6:107635278 [GRCh38]
Chr6:107956482 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1747T>A (p.Ser583Thr) single nucleotide variant not specified [RCV004868222] Chr6:107634591 [GRCh38]
Chr6:107955795 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1649A>G (p.Lys550Arg) single nucleotide variant not specified [RCV004868223] Chr6:107634493 [GRCh38]
Chr6:107955697 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.268G>A (p.Asp90Asn) single nucleotide variant not specified [RCV004868224] Chr6:107506274 [GRCh38]
Chr6:107827478 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1222C>T (p.Arg408Cys) single nucleotide variant not specified [RCV004868226] Chr6:107634066 [GRCh38]
Chr6:107955270 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.1940A>G (p.Gln647Arg) single nucleotide variant not specified [RCV004868227] Chr6:107634784 [GRCh38]
Chr6:107955988 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2384C>T (p.Ala795Val) single nucleotide variant not specified [RCV004868228] Chr6:107635228 [GRCh38]
Chr6:107956432 [GRCh37]
Chr6:6q21		 uncertain significance
NM_018013.4(SOBP):c.2225C>T (p.Pro742Leu) single nucleotide variant Intellectual disability, anterior maxillary protrusion, and strabismus [RCV005037751] Chr6:107635069 [GRCh38]
Chr6:107956273 [GRCh37]
Chr6:6q21		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1379
Count of miRNA genes:810
Interacting mature miRNAs:972
Transcripts:ENST00000317357, ENST00000477448, ENST00000494935
Prediction methods:Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597273980GWAS1370054_Hschizophrenia QTL GWAS1370054 (human)0.000001schizophrenia6107544105107544106Human
597032144GWAS1128218_Hheel bone mineral density QTL GWAS1128218 (human)3e-16heel bone mineral densitybone mineral density (CMO:0001226)6107641266107641267Human
597301266GWAS1397340_Hbody mass index QTL GWAS1397340 (human)4e-09body mass indexbody mass index (BMI) (CMO:0000105)6107574214107574215Human
1298426BFD3_HBody fluid distribution QTL 3 (human)2.790.01Body fluid distributionimpedance ratio684873647110873647Human
596987470GWAS1106989_Hbody mass index QTL GWAS1106989 (human)4e-09body mass index6107574214107574215Human
407050488GWAS699464_Hkynurenine measurement QTL GWAS699464 (human)0.000004kynurenine measurement6107576928107576929Human
597337078GWAS1433152_Hbreast density QTL GWAS1433152 (human)0.000008breast density6107520877107520878Human
407056991GWAS705967_Hheel bone mineral density QTL GWAS705967 (human)9e-14heel bone mineral densitybone mineral density (CMO:0001226)6107610779107610780Human
597208149GWAS1304223_Hprotein measurement QTL GWAS1304223 (human)6e-09protein measurement6107569946107569947Human
597191494GWAS1287568_Hbody mass index QTL GWAS1287568 (human)6e-10body mass indexbody mass index (BMI) (CMO:0000105)6107552579107552580Human
597214279GWAS1310353_Hheel bone mineral density QTL GWAS1310353 (human)7e-18heel bone mineral densitybone mineral density (CMO:0001226)6107641266107641267Human

Markers in Region
D6S1635  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376107,951,900 - 107,952,049UniSTSGRCh37
Build 366108,058,593 - 108,058,742RGDNCBI36
Celera6108,700,332 - 108,700,475RGD
Cytogenetic Map6q21UniSTS
HuRef6105,522,987 - 105,523,130UniSTS
Marshfield Genetic Map6117.29RGD
Marshfield Genetic Map6117.29UniSTS
Genethon Genetic Map6117.3UniSTS
deCODE Assembly Map6111.74UniSTS
GeneMap99-GB4 RH Map6464.69UniSTS
RH47900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376107,937,988 - 107,938,159UniSTSGRCh37
Build 366108,044,681 - 108,044,852RGDNCBI36
Celera6108,686,420 - 108,686,591RGD
Cytogenetic Map6q21UniSTS
HuRef6105,509,076 - 105,509,247UniSTS
GeneMap99-GB4 RH Map6459.92UniSTS
NCBI RH Map61406.9UniSTS
SHGC-82344  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376107,888,805 - 107,889,127UniSTSGRCh37
Build 366107,995,498 - 107,995,820RGDNCBI36
Celera6108,637,258 - 108,637,580RGD
Cytogenetic Map6q21UniSTS
HuRef6105,459,597 - 105,459,919UniSTS
TNG Radiation Hybrid Map652018.0UniSTS
D6S1537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376107,980,534 - 107,980,653UniSTSGRCh37
Build 366108,087,227 - 108,087,346RGDNCBI36
Celera6108,729,041 - 108,729,160RGD
Cytogenetic Map6q21UniSTS
HuRef6105,551,459 - 105,551,578UniSTS
SHGC-106830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376107,820,768 - 107,821,049UniSTSGRCh37
Build 366107,927,461 - 107,927,742RGDNCBI36
Celera6108,569,217 - 108,569,498RGD
Cytogenetic Map6q21UniSTS
HuRef6105,391,563 - 105,391,844UniSTS
TNG Radiation Hybrid Map651994.0UniSTS
RH18478  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376107,838,955 - 107,839,144UniSTSGRCh37
Build 366107,945,648 - 107,945,837RGDNCBI36
Celera6108,587,404 - 108,587,593RGD
Cytogenetic Map6q21UniSTS
HuRef6105,409,750 - 105,409,939UniSTS
GeneMap99-GB4 RH Map6464.49UniSTS
NCBI RH Map61397.9UniSTS
RH36033  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376107,956,358 - 107,956,472UniSTSGRCh37
Build 366108,063,051 - 108,063,165RGDNCBI36
Celera6108,704,784 - 108,704,898RGD
Cytogenetic Map6q21UniSTS
HuRef6105,527,317 - 105,527,431UniSTS
GeneMap99-GB4 RH Map6459.92UniSTS
NCBI RH Map61404.5UniSTS
SGC32903  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376107,839,084 - 107,839,186UniSTSGRCh37
Build 366107,945,777 - 107,945,879RGDNCBI36
Celera6108,587,533 - 108,587,635RGD
Cytogenetic Map6q21UniSTS
HuRef6105,409,879 - 105,409,981UniSTS
GeneMap99-GB4 RH Map6464.28UniSTS
GeneMap99-GB4 RH Map6459.92UniSTS
Whitehead-RH Map6683.8UniSTS
RH47967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376107,981,128 - 107,981,273UniSTSGRCh37
Build 366108,087,821 - 108,087,966RGDNCBI36
Celera6108,729,635 - 108,729,780RGD
Cytogenetic Map6q21UniSTS
HuRef6105,552,053 - 105,552,198UniSTS
GeneMap99-GB4 RH Map6459.92UniSTS
NCBI RH Map61401.4UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2401 2788 2251 4964 1722 2309 5 620 1904 460 2262 7205 6421 50 3732 1 832 1734 1579 170 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005267041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005267042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK090879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL096816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL671934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC091526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM684094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX442875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ507800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000317357   ⟹   ENSP00000318900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6107,490,117 - 107,661,306 (+)Ensembl
Ensembl Acc Id: ENST00000477448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6107,490,106 - 107,558,287 (+)Ensembl
Ensembl Acc Id: ENST00000494935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6107,634,990 - 107,636,316 (+)Ensembl
Ensembl Acc Id: ENST00000618129   ⟹   ENSP00000478366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6107,490,604 - 107,515,073 (+)Ensembl
RefSeq Acc Id: NM_018013   ⟹   NP_060483
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386107,490,117 - 107,661,306 (+)NCBI
GRCh376107,811,317 - 107,982,513 (+)NCBI
Build 366107,918,010 - 108,089,206 (+)NCBI Archive
Celera6108,559,766 - 108,731,020 (+)RGD
HuRef6105,382,294 - 105,553,438 (+)ENTREZGENE
CHM1_16108,074,040 - 108,245,206 (+)NCBI
T2T-CHM13v2.06108,669,050 - 108,840,201 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535920   ⟹   XP_011534222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386107,490,117 - 107,643,936 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047418962   ⟹   XP_047274918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386107,490,117 - 107,643,936 (+)NCBI
RefSeq Acc Id: XM_047418963   ⟹   XP_047274919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386107,490,117 - 107,643,936 (+)NCBI
RefSeq Acc Id: XM_047418964   ⟹   XP_047274920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386107,490,117 - 107,643,936 (+)NCBI
RefSeq Acc Id: XM_047418965   ⟹   XP_047274921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386107,503,805 - 107,643,936 (+)NCBI
RefSeq Acc Id: XM_047418966   ⟹   XP_047274922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386107,529,526 - 107,643,936 (+)NCBI
RefSeq Acc Id: XM_047418967   ⟹   XP_047274923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386107,529,526 - 107,643,936 (+)NCBI
RefSeq Acc Id: XM_047418968   ⟹   XP_047274924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386107,506,356 - 107,643,936 (+)NCBI
RefSeq Acc Id: XM_054355763   ⟹   XP_054211738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06108,669,050 - 108,821,058 (+)NCBI
RefSeq Acc Id: XM_054355764   ⟹   XP_054211739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06108,669,050 - 108,821,058 (+)NCBI
RefSeq Acc Id: XM_054355765   ⟹   XP_054211740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06108,669,050 - 108,821,058 (+)NCBI
RefSeq Acc Id: XM_054355766   ⟹   XP_054211741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06108,669,050 - 108,821,058 (+)NCBI
RefSeq Acc Id: XM_054355767   ⟹   XP_054211742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06108,682,738 - 108,821,058 (+)NCBI
RefSeq Acc Id: XM_054355768   ⟹   XP_054211743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06108,685,294 - 108,821,058 (+)NCBI
RefSeq Acc Id: XM_054355769   ⟹   XP_054211744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06108,685,289 - 108,821,058 (+)NCBI
RefSeq Acc Id: NP_060483   ⟸   NM_018013
- UniProtKB: Q5BJD4 (UniProtKB/Swiss-Prot),   B0QZ12 (UniProtKB/Swiss-Prot),   Q8N2B2 (UniProtKB/Swiss-Prot),   A7XYQ1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011534222   ⟸   XM_011535920
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000478366   ⟸   ENST00000618129
Ensembl Acc Id: ENSP00000318900   ⟸   ENST00000317357
RefSeq Acc Id: XP_047274918   ⟸   XM_047418962
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047274919   ⟸   XM_047418963
- Peptide Label: isoform X3
- UniProtKB: Q5BJD4 (UniProtKB/Swiss-Prot),   B0QZ12 (UniProtKB/Swiss-Prot),   A7XYQ1 (UniProtKB/Swiss-Prot),   Q8N2B2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047274920   ⟸   XM_047418964
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047274921   ⟸   XM_047418965
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047274924   ⟸   XM_047418968
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047274923   ⟸   XM_047418967
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047274922   ⟸   XM_047418966
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054211738   ⟸   XM_054355763
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054211739   ⟸   XM_054355764
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054211740   ⟸   XM_054355765
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054211741   ⟸   XM_054355766
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054211742   ⟸   XM_054355767
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054211744   ⟸   XM_054355769
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054211743   ⟸   XM_054355768
- Peptide Label: isoform X5

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A7XYQ1-F1-model_v2 AlphaFold A7XYQ1 1-873 view protein structure

Promoters
RGD ID:7208825
Promoter ID:EPDNEW_H10158
Type:initiation region
Name:SOBP_1
Description:sine oculis binding protein homolog
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
GRCh386107,490,542 - 107,490,602EPDNEW
RGD ID:6804025
Promoter ID:HG_KWN:54531
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Jurkat,   Lymphoblastoid,   NB4
Transcripts:ENST00000369027,   OTTHUMT00000041693,   OTTHUMT00000320929,   UC003PRW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366107,916,961 - 107,918,257 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29256 AgrOrtholog
COSMIC SOBP COSMIC
Ensembl Genes ENSG00000112320 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000317357 ENTREZGENE
  ENST00000317357.10 UniProtKB/Swiss-Prot
  ENST00000618129.1 UniProtKB/TrEMBL
GTEx ENSG00000112320 GTEx
HGNC ID HGNC:29256 ENTREZGENE
Human Proteome Map SOBP Human Proteome Map
InterPro RAI2/SOBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55084 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 55084 ENTREZGENE
OMIM 613667 OMIM
PANTHER PTHR23186 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SINE OCULIS-BINDING PROTEIN HOMOLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SOBP UniProtKB/Swiss-Prot
PharmGKB PA162404346 PharmGKB
UniProt A0A0C4DGT7_HUMAN UniProtKB/TrEMBL
  A7XYQ1 ENTREZGENE
  B0QZ12 ENTREZGENE
  Q24K27_HUMAN UniProtKB/TrEMBL
  Q5BJD4 ENTREZGENE
  Q8N2B2 ENTREZGENE
  SOBP_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B0QZ12 UniProtKB/Swiss-Prot
  Q5BJD4 UniProtKB/Swiss-Prot
  Q8N2B2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-07-07 SOBP  sine oculis binding protein homolog    sine oculis binding protein homolog (Drosophila)  Symbol and/or name change 5135510 APPROVED