TULP4 (TUB like protein 4) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: TULP4 (TUB like protein 4) Homo sapiens
Analyze
Symbol: TULP4
Name: TUB like protein 4
RGD ID: 1350994
HGNC Page HGNC:15530
Description: Predicted to be involved in protein ubiquitination. Located in cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: KIAA1397; RP3-442A17.1; tubby like protein 4; tubby super-family protein; tubby superfamily protein; tubby-like protein 4; tubby-related protein 4; TUSP
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
GRCh386158,232,195 - 158,511,828 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6158,232,236 - 158,511,828 (+)EnsemblGRCh38hg38GRCh38
GRCh376158,733,497 - 158,932,860 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366158,653,680 - 158,852,848 (+)NCBINCBI36Build 36hg18NCBI36
Build 346158,704,100 - 158,903,263NCBI
Celera6159,381,741 - 159,580,886 (+)NCBICelera
Cytogenetic Map6q25.3NCBI
HuRef6156,205,571 - 156,404,118 (+)NCBIHuRef
CHM1_16158,996,493 - 159,195,628 (+)NCBICHM1_1
T2T-CHM13v2.06159,476,584 - 159,756,806 (+)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
cytoplasm  (IDA,IEA)
cytosol  (TAS)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
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
Additional References at PubMed
PMID:8612280   PMID:10718198   PMID:11595174   PMID:12076535   PMID:12477932   PMID:14702039   PMID:17474147   PMID:18029348   PMID:19322201   PMID:20379614   PMID:20881960   PMID:21145461  
PMID:21873635   PMID:24066709   PMID:27684187   PMID:28514442   PMID:28611215   PMID:29117863   PMID:29507755   PMID:30472188   PMID:31048545   PMID:31253590   PMID:33961781   PMID:35044719  
PMID:35748872   PMID:38115643  


Genomics

Comparative Map Data
TULP4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386158,232,195 - 158,511,828 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6158,232,236 - 158,511,828 (+)EnsemblGRCh38hg38GRCh38
GRCh376158,733,497 - 158,932,860 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366158,653,680 - 158,852,848 (+)NCBINCBI36Build 36hg18NCBI36
Build 346158,704,100 - 158,903,263NCBI
Celera6159,381,741 - 159,580,886 (+)NCBICelera
Cytogenetic Map6q25.3NCBI
HuRef6156,205,571 - 156,404,118 (+)NCBIHuRef
CHM1_16158,996,493 - 159,195,628 (+)NCBICHM1_1
T2T-CHM13v2.06159,476,584 - 159,756,806 (+)NCBIT2T-CHM13v2.0
Tulp4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39176,156,528 - 6,290,912 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl176,156,712 - 6,301,403 (+)EnsemblGRCm39 Ensembl
GRCm38176,106,253 - 6,240,637 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl176,106,437 - 6,251,128 (+)EnsemblGRCm38mm10GRCm38
MGSCv37176,106,830 - 6,240,637 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36176,095,226 - 6,197,103 (+)NCBIMGSCv36mm8
Celera176,644,957 - 6,763,753 (+)NCBICelera
Cytogenetic Map17A1NCBI
cM Map173.72NCBI
Tulp4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8149,082,492 - 49,218,262 (+)NCBIGRCr8
mRatBN7.2146,682,416 - 46,813,167 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl146,682,863 - 46,809,688 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx147,259,725 - 47,357,561 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0153,246,987 - 53,344,818 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0147,335,153 - 47,432,988 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0147,002,928 - 47,128,114 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl147,032,113 - 47,127,035 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0148,306,876 - 48,435,206 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4140,912,287 - 41,010,505 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera142,399,937 - 42,497,708 (+)NCBICelera
Cytogenetic Map1q11NCBI
Tulp4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554393,940,098 - 4,119,874 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554393,935,422 - 4,121,780 (-)NCBIChiLan1.0ChiLan1.0
TULP4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25178,348,549 - 178,620,918 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16176,252,142 - 176,524,790 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06156,134,524 - 156,406,899 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16161,227,355 - 161,421,659 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6161,227,355 - 161,416,546 (+)Ensemblpanpan1.1panPan2
TULP4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1147,727,642 - 47,952,818 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl147,791,993 - 47,951,710 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha148,570,799 - 48,797,892 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0147,913,821 - 48,141,165 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl147,913,845 - 48,139,520 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1147,791,982 - 48,015,516 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0147,663,797 - 47,886,197 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0148,223,163 - 48,445,777 (+)NCBIUU_Cfam_GSD_1.0
Tulp4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946142,838,786 - 143,003,641 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648910,092,739 - 10,252,154 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648910,090,759 - 10,255,634 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TULP4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.118,650,811 - 8,891,596 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2110,659,274 - 10,681,041 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TULP4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11385,881,735 - 86,088,074 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1385,883,698 - 86,085,894 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604058,185,297 - 58,463,770 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tulp4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249291,098,801 - 1,253,891 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249291,095,164 - 1,317,623 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TULP4
120 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 copy number gain See cases [RCV000050604] Chr6:141132990..169339571 [GRCh38]
Chr6:141454127..169739666 [GRCh37]
Chr6:141495820..169481591 [NCBI36]
Chr6:6q24.1-27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170583214)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|See cases [RCV000051902] Chr6:152376338..170583214 [GRCh38]
Chr6:152697473..170892302 [GRCh37]
Chr6:152739166..170734227 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.3(chr6:157827805-159726548)x3 copy number gain See cases [RCV000051903] Chr6:157827805..159726548 [GRCh38]
Chr6:158248837..160147580 [GRCh37]
Chr6:158168825..160067570 [NCBI36]
Chr6:6q25.3
pathogenic
GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1 copy number loss See cases [RCV000052207] Chr6:154118058..170602152 [GRCh38]
Chr6:154439193..170911240 [GRCh37]
Chr6:154480885..170753165 [NCBI36]
Chr6:6q25.2-27
pathogenic
NM_001007466.2(TULP4):c.794G>A (p.Gly265Glu) single nucleotide variant Malignant melanoma [RCV000067196] Chr6:158452203 [GRCh38]
Chr6:158873235 [GRCh37]
Chr6:158793223 [NCBI36]
Chr6:6q25.3
not provided
GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1 copy number loss See cases [RCV000134896] Chr6:154178964..159020369 [GRCh38]
Chr6:154500098..159441401 [GRCh37]
Chr6:154541790..159361389 [NCBI36]
Chr6:6q25.2-25.3
likely pathogenic
GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1 copy number loss See cases [RCV000137381] Chr6:154539655..170714507 [GRCh38]
Chr6:154860789..171023595 [GRCh37]
Chr6:154902481..170865520 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.3(chr6:158172635-158745586)x3 copy number gain See cases [RCV000138111] Chr6:158172635..158745586 [GRCh38]
Chr6:158593667..159166618 [GRCh37]
Chr6:158513655..159086606 [NCBI36]
Chr6:6q25.3
uncertain significance
GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1 copy number loss See cases [RCV000137831] Chr6:155378049..163133499 [GRCh38]
Chr6:155699183..163554531 [GRCh37]
Chr6:155740875..163474521 [NCBI36]
Chr6:6q25.3-26
pathogenic
GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1 copy number loss See cases [RCV000139578] Chr6:150381239..159553952 [GRCh38]
Chr6:150702375..159974984 [GRCh37]
Chr6:150744068..159894974 [NCBI36]
Chr6:6q25.1-25.3
pathogenic
GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1 copy number loss See cases [RCV000141880] Chr6:152793402..170610394 [GRCh38]
Chr6:153114537..170919482 [GRCh37]
Chr6:153156230..170761407 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.3(chr6:158174555-158762476)x3 copy number gain See cases [RCV000141740] Chr6:158174555..158762476 [GRCh38]
Chr6:158595587..159183508 [GRCh37]
Chr6:158515575..159103496 [NCBI36]
Chr6:6q25.3
likely benign|uncertain significance
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3 copy number gain See cases [RCV000142594] Chr6:152376338..170612001 [GRCh38]
Chr6:152697473..170921089 [GRCh37]
Chr6:152739166..170763014 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3 copy number gain See cases [RCV000143444] Chr6:133537271..165875545 [GRCh38]
Chr6:133858409..166289033 [GRCh37]
Chr6:133900102..166209023 [NCBI36]
Chr6:6q23.2-27
pathogenic
GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3 copy number gain See cases [RCV000449011] Chr6:151214792..170892243 [GRCh37]
Chr6:6q25.1-27
pathogenic
NM_020245.5(TULP4):c.3967G>A (p.Glu1323Lys) single nucleotide variant Inborn genetic diseases [RCV003244671] Chr6:158503630 [GRCh38]
Chr6:158924662 [GRCh37]
Chr6:6q25.3
uncertain significance
GRCh37/hg19 6q25.3(chr6:158392800-159229197)x3 copy number gain See cases [RCV000447581] Chr6:158392800..159229197 [GRCh37]
Chr6:6q25.3
uncertain significance
GRCh37/hg19 6q25.3(chr6:155525920-159889169)x1 copy number loss See cases [RCV000447692] Chr6:155525920..159889169 [GRCh37]
Chr6:6q25.3
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
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_020245.5(TULP4):c.3148G>A (p.Gly1050Arg) single nucleotide variant Inborn genetic diseases [RCV003279417] Chr6:158502811 [GRCh38]
Chr6:158923843 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.2906C>T (p.Ala969Val) single nucleotide variant Inborn genetic diseases [RCV003255411] Chr6:158502569 [GRCh38]
Chr6:158923601 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3091C>G (p.Pro1031Ala) single nucleotide variant Inborn genetic diseases [RCV003292997] Chr6:158502754 [GRCh38]
Chr6:158923786 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.1453G>A (p.Val485Ile) single nucleotide variant Inborn genetic diseases [RCV003270933] Chr6:158481256 [GRCh38]
Chr6:158902288 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.1367C>T (p.Pro456Leu) single nucleotide variant Inborn genetic diseases [RCV003261393] Chr6:158481170 [GRCh38]
Chr6:158902202 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3058G>T (p.Gly1020Trp) single nucleotide variant Inborn genetic diseases [RCV003263677] Chr6:158502721 [GRCh38]
Chr6:158923753 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3274G>A (p.Glu1092Lys) single nucleotide variant Inborn genetic diseases [RCV003305531] Chr6:158502937 [GRCh38]
Chr6:158923969 [GRCh37]
Chr6:6q25.3
uncertain significance
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn complex Coffin-Siris syndrome 1 [RCV000714957] Chr6:151443333..171115067 [GRCh37]
Chr6:6q25.1-27
pathogenic
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(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [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 6q25.1-27(chr6:150284435-170919470)x3 copy number gain not provided [RCV000746100] Chr6:150284435..170919470 [GRCh37]
Chr6:6q25.1-27
pathogenic
NM_020245.5(TULP4):c.3250G>A (p.Val1084Ile) single nucleotide variant not provided [RCV000970151] Chr6:158502913 [GRCh38]
Chr6:158923945 [GRCh37]
Chr6:6q25.3
likely benign
NM_020245.5(TULP4):c.2334G>A (p.Pro778=) single nucleotide variant not provided [RCV000948753] Chr6:158501997 [GRCh38]
Chr6:158923029 [GRCh37]
Chr6:6q25.3
benign
NM_020245.5(TULP4):c.3966C>T (p.Thr1322=) single nucleotide variant not provided [RCV000882003] Chr6:158503629 [GRCh38]
Chr6:158924661 [GRCh37]
Chr6:6q25.3
likely benign
NM_020245.5(TULP4):c.3183G>A (p.Pro1061=) single nucleotide variant not provided [RCV000965355] Chr6:158502846 [GRCh38]
Chr6:158923878 [GRCh37]
Chr6:6q25.3
benign
NM_020245.5(TULP4):c.4093T>C (p.Leu1365=) single nucleotide variant not provided [RCV000958892] Chr6:158503756 [GRCh38]
Chr6:158924788 [GRCh37]
Chr6:6q25.3
benign
NM_020245.5(TULP4):c.3027G>A (p.Leu1009=) single nucleotide variant not provided [RCV000953731] Chr6:158502690 [GRCh38]
Chr6:158923722 [GRCh37]
Chr6:6q25.3
likely benign
NM_020245.5(TULP4):c.250G>A (p.Glu84Lys) single nucleotide variant Inborn genetic diseases [RCV003290180] Chr6:158314266 [GRCh38]
Chr6:158735298 [GRCh37]
Chr6:6q25.3
uncertain significance
GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3 copy number gain not provided [RCV000848057] Chr6:157262571..160992289 [GRCh37]
Chr6:6q25.3
uncertain significance
GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3 copy number gain not provided [RCV000846496] Chr6:148195086..160127254 [GRCh37]
Chr6:6q24.3-25.3
pathogenic
GRCh37/hg19 6q25.3(chr6:158595235-158824107)x3 copy number gain not provided [RCV001005865] Chr6:158595235..158824107 [GRCh37]
Chr6:6q25.3
uncertain significance
GRCh37/hg19 6q25.3(chr6:158560805-158764786)x1 copy number loss not provided [RCV000847445] Chr6:158560805..158764786 [GRCh37]
Chr6:6q25.3
uncertain significance
GRCh37/hg19 6q25.2-25.3(chr6:155426680-158863541)x3 copy number gain not provided [RCV000845753] Chr6:155426680..158863541 [GRCh37]
Chr6:6q25.2-25.3
uncertain significance
NM_020245.5(TULP4):c.1955A>G (p.Tyr652Cys) single nucleotide variant Inborn genetic diseases [RCV003273881] Chr6:158498753 [GRCh38]
Chr6:158919785 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3841C>G (p.Pro1281Ala) single nucleotide variant not provided [RCV000912449] Chr6:158503504 [GRCh38]
Chr6:158924536 [GRCh37]
Chr6:6q25.3
likely benign
GRCh37/hg19 6q25.2-26(chr6:153207930-164322346) copy number loss not specified [RCV002053640] Chr6:153207930..164322346 [GRCh37]
Chr6:6q25.2-26
pathogenic
GRCh37/hg19 6q25.3(chr6:155525920-159889169) copy number loss not specified [RCV002053642] Chr6:155525920..159889169 [GRCh37]
Chr6:6q25.3
pathogenic
GRCh37/hg19 6q25.3(chr6:158392800-159229197) copy number gain not specified [RCV002053649] Chr6:158392800..159229197 [GRCh37]
Chr6:6q25.3
uncertain significance
NC_000006.11:g.(?_158532398)_(160114199_?)dup duplication Primary ciliary dyskinesia 32 [RCV001934131] Chr6:158532398..160114199 [GRCh37]
Chr6:6q25.3
uncertain significance
NC_000006.11:g.(?_158532398)_(162868359_?)del deletion 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003122912]|not provided [RCV003122911] Chr6:158532398..162868359 [GRCh37]
Chr6:6q25.3-26
pathogenic|no classifications from unflagged records
GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1 copy number loss See cases [RCV002287557] Chr6:157318401..165233548 [GRCh37]
Chr6:6q25.3-27
pathogenic
NM_020245.5(TULP4):c.3551G>C (p.Gly1184Ala) single nucleotide variant Inborn genetic diseases [RCV003276723] Chr6:158503214 [GRCh38]
Chr6:158924246 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3802G>A (p.Ala1268Thr) single nucleotide variant Inborn genetic diseases [RCV002729479] Chr6:158503465 [GRCh38]
Chr6:158924497 [GRCh37]
Chr6:6q25.3
likely benign
NM_020245.5(TULP4):c.631G>C (p.Gly211Arg) single nucleotide variant Inborn genetic diseases [RCV002771760] Chr6:158449083 [GRCh38]
Chr6:158870115 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.395C>T (p.Thr132Met) single nucleotide variant Inborn genetic diseases [RCV002749430] Chr6:158429749 [GRCh38]
Chr6:158850781 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3767C>T (p.Pro1256Leu) single nucleotide variant Inborn genetic diseases [RCV002905443] Chr6:158503430 [GRCh38]
Chr6:158924462 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.2626T>C (p.Ser876Pro) single nucleotide variant Inborn genetic diseases [RCV002902606] Chr6:158502289 [GRCh38]
Chr6:158923321 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.2963G>A (p.Arg988Gln) single nucleotide variant Inborn genetic diseases [RCV002688768] Chr6:158502626 [GRCh38]
Chr6:158923658 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.1520T>C (p.Val507Ala) single nucleotide variant Inborn genetic diseases [RCV002882952] Chr6:158489621 [GRCh38]
Chr6:158910653 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.370C>T (p.Arg124Cys) single nucleotide variant Inborn genetic diseases [RCV002883544] Chr6:158413182 [GRCh38]
Chr6:158834214 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3266C>T (p.Thr1089Met) single nucleotide variant Inborn genetic diseases [RCV002731794] Chr6:158502929 [GRCh38]
Chr6:158923961 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3037G>A (p.Ala1013Thr) single nucleotide variant Inborn genetic diseases [RCV002989740] Chr6:158502700 [GRCh38]
Chr6:158923732 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.2869G>C (p.Asp957His) single nucleotide variant Inborn genetic diseases [RCV002773167] Chr6:158502532 [GRCh38]
Chr6:158923564 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3128C>G (p.Thr1043Arg) single nucleotide variant Inborn genetic diseases [RCV002924807] Chr6:158502791 [GRCh38]
Chr6:158923823 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.1169G>A (p.Arg390His) single nucleotide variant Inborn genetic diseases [RCV002950786] Chr6:158479893 [GRCh38]
Chr6:158900925 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.2833C>T (p.Arg945Cys) single nucleotide variant Inborn genetic diseases [RCV002977544] Chr6:158502496 [GRCh38]
Chr6:158923528 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.4001G>C (p.Gly1334Ala) single nucleotide variant Inborn genetic diseases [RCV002694671] Chr6:158503664 [GRCh38]
Chr6:158924696 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3647C>T (p.Thr1216Met) single nucleotide variant Inborn genetic diseases [RCV002911982] Chr6:158503310 [GRCh38]
Chr6:158924342 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.245A>G (p.Asn82Ser) single nucleotide variant Inborn genetic diseases [RCV002949888] Chr6:158314261 [GRCh38]
Chr6:158735293 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3269A>G (p.Glu1090Gly) single nucleotide variant Inborn genetic diseases [RCV002757859] Chr6:158502932 [GRCh38]
Chr6:158923964 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3665A>T (p.Glu1222Val) single nucleotide variant Inborn genetic diseases [RCV002980068] Chr6:158503328 [GRCh38]
Chr6:158924360 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.2887G>C (p.Glu963Gln) single nucleotide variant Inborn genetic diseases [RCV002797456] Chr6:158502550 [GRCh38]
Chr6:158923582 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.4321G>A (p.Glu1441Lys) single nucleotide variant Inborn genetic diseases [RCV002784788] Chr6:158503984 [GRCh38]
Chr6:158925016 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3232C>T (p.Arg1078Cys) single nucleotide variant Inborn genetic diseases [RCV002870349] Chr6:158502895 [GRCh38]
Chr6:158923927 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.1268C>T (p.Pro423Leu) single nucleotide variant Inborn genetic diseases [RCV002739328] Chr6:158481071 [GRCh38]
Chr6:158902103 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.2783C>T (p.Thr928Met) single nucleotide variant Inborn genetic diseases [RCV002660905] Chr6:158502446 [GRCh38]
Chr6:158923478 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.1700G>A (p.Arg567Gln) single nucleotide variant Inborn genetic diseases [RCV002869904] Chr6:158493641 [GRCh38]
Chr6:158914673 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3248A>G (p.Tyr1083Cys) single nucleotide variant Inborn genetic diseases [RCV002787070] Chr6:158502911 [GRCh38]
Chr6:158923943 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.2191G>A (p.Val731Ile) single nucleotide variant Inborn genetic diseases [RCV002744575] Chr6:158501854 [GRCh38]
Chr6:158922886 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.2705G>A (p.Arg902Gln) single nucleotide variant Inborn genetic diseases [RCV002804821] Chr6:158502368 [GRCh38]
Chr6:158923400 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3257C>T (p.Ser1086Leu) single nucleotide variant Inborn genetic diseases [RCV002987173] Chr6:158502920 [GRCh38]
Chr6:158923952 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3302A>G (p.Glu1101Gly) single nucleotide variant Inborn genetic diseases [RCV002744124] Chr6:158502965 [GRCh38]
Chr6:158923997 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.1176C>G (p.Asp392Glu) single nucleotide variant Inborn genetic diseases [RCV002696993] Chr6:158479900 [GRCh38]
Chr6:158900932 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3362C>T (p.Pro1121Leu) single nucleotide variant Inborn genetic diseases [RCV002743139] Chr6:158503025 [GRCh38]
Chr6:158924057 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.2763C>G (p.Ser921Arg) single nucleotide variant Inborn genetic diseases [RCV002874015] Chr6:158502426 [GRCh38]
Chr6:158923458 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3175G>A (p.Ala1059Thr) single nucleotide variant Inborn genetic diseases [RCV002698909] Chr6:158502838 [GRCh38]
Chr6:158923870 [GRCh37]
Chr6:6q25.3
likely benign
NM_020245.5(TULP4):c.2962C>T (p.Arg988Trp) single nucleotide variant Inborn genetic diseases [RCV002957111] Chr6:158502625 [GRCh38]
Chr6:158923657 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.2507C>T (p.Pro836Leu) single nucleotide variant Inborn genetic diseases [RCV002891610] Chr6:158502170 [GRCh38]
Chr6:158923202 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.2244C>G (p.Asn748Lys) single nucleotide variant Inborn genetic diseases [RCV002915614] Chr6:158501907 [GRCh38]
Chr6:158922939 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.1552G>T (p.Asp518Tyr) single nucleotide variant Inborn genetic diseases [RCV002850016] Chr6:158489653 [GRCh38]
Chr6:158910685 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.2090C>T (p.Ser697Leu) single nucleotide variant Inborn genetic diseases [RCV002985067] Chr6:158501753 [GRCh38]
Chr6:158922785 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.1118G>A (p.Arg373Gln) single nucleotide variant Inborn genetic diseases [RCV002789130] Chr6:158479842 [GRCh38]
Chr6:158900874 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.2915G>C (p.Arg972Pro) single nucleotide variant Inborn genetic diseases [RCV002805014] Chr6:158502578 [GRCh38]
Chr6:158923610 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.815A>G (p.Asn272Ser) single nucleotide variant Inborn genetic diseases [RCV002964370] Chr6:158452224 [GRCh38]
Chr6:158873256 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3355C>T (p.Pro1119Ser) single nucleotide variant Inborn genetic diseases [RCV002674523] Chr6:158503018 [GRCh38]
Chr6:158924050 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.1183G>A (p.Val395Ile) single nucleotide variant Inborn genetic diseases [RCV002793024] Chr6:158479907 [GRCh38]
Chr6:158900939 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3244G>A (p.Asp1082Asn) single nucleotide variant Inborn genetic diseases [RCV002668892] Chr6:158502907 [GRCh38]
Chr6:158923939 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.482C>T (p.Ser161Leu) single nucleotide variant Inborn genetic diseases [RCV002921288] Chr6:158429836 [GRCh38]
Chr6:158850868 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3169G>A (p.Ala1057Thr) single nucleotide variant Inborn genetic diseases [RCV002961169] Chr6:158502832 [GRCh38]
Chr6:158923864 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3919G>A (p.Val1307Met) single nucleotide variant Inborn genetic diseases [RCV002897374] Chr6:158503582 [GRCh38]
Chr6:158924614 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.2356T>C (p.Ser786Pro) single nucleotide variant Inborn genetic diseases [RCV002718521] Chr6:158502019 [GRCh38]
Chr6:158923051 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.1478G>A (p.Ser493Asn) single nucleotide variant Inborn genetic diseases [RCV002672855] Chr6:158481281 [GRCh38]
Chr6:158902313 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.1726G>C (p.Gly576Arg) single nucleotide variant Inborn genetic diseases [RCV002792626] Chr6:158493667 [GRCh38]
Chr6:158914699 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.2360C>T (p.Thr787Met) single nucleotide variant Inborn genetic diseases [RCV002896395] Chr6:158502023 [GRCh38]
Chr6:158923055 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.4013G>A (p.Arg1338Gln) single nucleotide variant Inborn genetic diseases [RCV002656494] Chr6:158503676 [GRCh38]
Chr6:158924708 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3556G>A (p.Gly1186Arg) single nucleotide variant Inborn genetic diseases [RCV002722585] Chr6:158503219 [GRCh38]
Chr6:158924251 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.2624C>T (p.Thr875Met) single nucleotide variant Inborn genetic diseases [RCV002657165] Chr6:158502287 [GRCh38]
Chr6:158923319 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.742C>T (p.Pro248Ser) single nucleotide variant Inborn genetic diseases [RCV003299293] Chr6:158452151 [GRCh38]
Chr6:158873183 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.4040A>G (p.Glu1347Gly) single nucleotide variant Inborn genetic diseases [RCV003196163] Chr6:158503703 [GRCh38]
Chr6:158924735 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3016C>T (p.Arg1006Trp) single nucleotide variant Inborn genetic diseases [RCV003196414] Chr6:158502679 [GRCh38]
Chr6:158923711 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.2876C>T (p.Pro959Leu) single nucleotide variant Inborn genetic diseases [RCV003207531] Chr6:158502539 [GRCh38]
Chr6:158923571 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3233G>A (p.Arg1078His) single nucleotide variant Inborn genetic diseases [RCV003183184] Chr6:158502896 [GRCh38]
Chr6:158923928 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3322C>G (p.Pro1108Ala) single nucleotide variant Inborn genetic diseases [RCV003173468] Chr6:158502985 [GRCh38]
Chr6:158924017 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.4390G>A (p.Val1464Met) single nucleotide variant Inborn genetic diseases [RCV003175787] Chr6:158504053 [GRCh38]
Chr6:158925085 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3722C>T (p.Pro1241Leu) single nucleotide variant Inborn genetic diseases [RCV003185447] Chr6:158503385 [GRCh38]
Chr6:158924417 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.2704C>T (p.Arg902Trp) single nucleotide variant Inborn genetic diseases [RCV003200213] Chr6:158502367 [GRCh38]
Chr6:158923399 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3182C>T (p.Pro1061Leu) single nucleotide variant Inborn genetic diseases [RCV003174623] Chr6:158502845 [GRCh38]
Chr6:158923877 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.1937G>A (p.Arg646Gln) single nucleotide variant Inborn genetic diseases [RCV003175722] Chr6:158498735 [GRCh38]
Chr6:158919767 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.1622A>G (p.Lys541Arg) single nucleotide variant Inborn genetic diseases [RCV003213462] Chr6:158489723 [GRCh38]
Chr6:158910755 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.2015T>C (p.Val672Ala) single nucleotide variant Inborn genetic diseases [RCV003195750] Chr6:158501678 [GRCh38]
Chr6:158922710 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.1424G>A (p.Arg475Gln) single nucleotide variant Inborn genetic diseases [RCV003190336] Chr6:158481227 [GRCh38]
Chr6:158902259 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3995A>T (p.Lys1332Ile) single nucleotide variant Inborn genetic diseases [RCV003263328] Chr6:158503658 [GRCh38]
Chr6:158924690 [GRCh37]
Chr6:6q25.3
uncertain significance
GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1 copy number loss Coffin-Siris syndrome 1 [RCV003327723] Chr6:150905553..158511926 [GRCh38]
Chr6:6q25.1-25.3
pathogenic
NM_020245.5(TULP4):c.1376C>G (p.Thr459Arg) single nucleotide variant Inborn genetic diseases [RCV003357579] Chr6:158481179 [GRCh38]
Chr6:158902211 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.4031G>T (p.Arg1344Leu) single nucleotide variant Inborn genetic diseases [RCV003357580] Chr6:158503694 [GRCh38]
Chr6:158924726 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.2949C>G (p.Ile983Met) single nucleotide variant Inborn genetic diseases [RCV003381699] Chr6:158502612 [GRCh38]
Chr6:158923644 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.4155G>C (p.Lys1385Asn) single nucleotide variant Inborn genetic diseases [RCV003384771] Chr6:158503818 [GRCh38]
Chr6:158924850 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.209C>T (p.Thr70Ile) single nucleotide variant Inborn genetic diseases [RCV003353847] Chr6:158314225 [GRCh38]
Chr6:158735257 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.2362G>A (p.Val788Met) single nucleotide variant Inborn genetic diseases [RCV003373671] Chr6:158502025 [GRCh38]
Chr6:158923057 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.3643C>T (p.Pro1215Ser) single nucleotide variant not provided [RCV003429023] Chr6:158503306 [GRCh38]
Chr6:158924338 [GRCh37]
Chr6:6q25.3
likely benign
NM_020245.5(TULP4):c.852G>A (p.Gly284=) single nucleotide variant not provided [RCV003429020] Chr6:158452261 [GRCh38]
Chr6:158873293 [GRCh37]
Chr6:6q25.3
likely benign
NM_020245.5(TULP4):c.513G>A (p.Thr171=) single nucleotide variant not provided [RCV003432147] Chr6:158429867 [GRCh38]
Chr6:158850899 [GRCh37]
Chr6:6q25.3
likely benign
NM_020245.5(TULP4):c.3321T>C (p.Pro1107=) single nucleotide variant not provided [RCV003429022] Chr6:158502984 [GRCh38]
Chr6:158924016 [GRCh37]
Chr6:6q25.3
likely benign
NM_020245.5(TULP4):c.1072T>C (p.Leu358=) single nucleotide variant not provided [RCV003429021] Chr6:158479796 [GRCh38]
Chr6:158900828 [GRCh37]
Chr6:6q25.3
likely benign
NM_020245.5(TULP4):c.1610G>A (p.Ser537Asn) single nucleotide variant not provided [RCV003432148] Chr6:158489711 [GRCh38]
Chr6:158910743 [GRCh37]
Chr6:6q25.3
likely benign
NM_020245.5(TULP4):c.2425C>A (p.Pro809Thr) single nucleotide variant not provided [RCV003432149] Chr6:158502088 [GRCh38]
Chr6:158923120 [GRCh37]
Chr6:6q25.3
likely benign
NC_000006.12:g.(?_150381239)_(159553952_?)del deletion Chromosome 6q24-q25 deletion syndrome [RCV003884000] Chr6:150381239..159553952 [GRCh38]
Chr6:6q25.1-25.3
pathogenic
NM_020245.5(TULP4):c.1631+3A>C single nucleotide variant not provided [RCV003885061] Chr6:158489735 [GRCh38]
Chr6:158910767 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_020245.5(TULP4):c.2103G>T (p.Met701Ile) single nucleotide variant Inborn genetic diseases [RCV003379557] Chr6:158501766 [GRCh38]
Chr6:158922798 [GRCh37]
Chr6:6q25.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2567
Count of miRNA genes:1026
Interacting mature miRNAs:1215
Transcripts:ENST00000367094, ENST00000367097
Prediction methods:Miranda
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
D6S437  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376158,763,949 - 158,764,079UniSTSGRCh37
GRCh376158,763,897 - 158,764,040UniSTSGRCh37
Build 366158,683,885 - 158,684,028RGDNCBI36
Celera6159,411,966 - 159,412,095RGD
Celera6159,412,018 - 159,412,134UniSTS
Cytogenetic Map6q25-q26UniSTS
HuRef6156,235,761 - 156,235,890UniSTS
HuRef6156,235,813 - 156,235,929UniSTS
Marshfield Genetic Map6161.59UniSTS
Marshfield Genetic Map6161.59RGD
Genethon Genetic Map6162.3UniSTS
TNG Radiation Hybrid Map678297.0UniSTS
deCODE Assembly Map6167.04UniSTS
RH36345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376158,920,769 - 158,920,868UniSTSGRCh37
Build 366158,840,757 - 158,840,856RGDNCBI36
Celera6159,568,792 - 159,568,891RGD
Cytogenetic Map6q25-q26UniSTS
HuRef6156,392,035 - 156,392,134UniSTS
GeneMap99-GB4 RH Map6616.27UniSTS
NCBI RH Map61624.5UniSTS
STS-H78234  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376158,928,283 - 158,928,438UniSTSGRCh37
Build 366158,848,271 - 158,848,426RGDNCBI36
Celera6159,576,316 - 159,576,471RGD
Cytogenetic Map6q25-q26UniSTS
HuRef6156,399,550 - 156,399,705UniSTS
GeneMap99-GB4 RH Map6616.27UniSTS
NCBI RH Map61631.6UniSTS
NIB330  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376158,780,876 - 158,781,068UniSTSGRCh37
Build 366158,700,864 - 158,701,056RGDNCBI36
Celera6159,428,897 - 159,429,089RGD
Cytogenetic Map6q25-q26UniSTS
HuRef6156,252,541 - 156,252,733UniSTS
GeneMap99-GB4 RH Map6616.37UniSTS
Whitehead-RH Map6827.2UniSTS
NCBI RH Map61631.6UniSTS
WI-14921  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376158,733,236 - 158,733,384UniSTSGRCh37
Build 366158,653,224 - 158,653,372RGDNCBI36
Celera6159,381,285 - 159,381,433RGD
Cytogenetic Map6q25-q26UniSTS
HuRef6156,205,115 - 156,205,263UniSTS
GeneMap99-GB4 RH Map6616.27UniSTS
Whitehead-RH Map6826.5UniSTS
NCBI RH Map61631.6UniSTS
SHGC-82563  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376158,749,878 - 158,750,204UniSTSGRCh37
Build 366158,669,866 - 158,670,192RGDNCBI36
Celera6159,397,951 - 159,398,277RGD
Cytogenetic Map6q25-q26UniSTS
HuRef6156,221,777 - 156,222,103UniSTS
TNG Radiation Hybrid Map678326.0UniSTS
RH122728  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376158,878,519 - 158,878,860UniSTSGRCh37
Build 366158,798,507 - 158,798,848RGDNCBI36
Celera6159,526,617 - 159,526,958RGD
Cytogenetic Map6q25-q26UniSTS
HuRef6156,349,859 - 156,350,200UniSTS
TNG Radiation Hybrid Map678223.0UniSTS
RH124055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376158,897,153 - 158,897,479UniSTSGRCh37
Build 366158,817,141 - 158,817,467RGDNCBI36
Celera6159,545,240 - 159,545,566RGD
Cytogenetic Map6q25-q26UniSTS
HuRef6156,368,481 - 156,368,807UniSTS
TNG Radiation Hybrid Map678247.0UniSTS
SHGC-105718  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376158,929,232 - 158,929,520UniSTSGRCh37
Build 366158,849,220 - 158,849,508RGDNCBI36
Celera6159,577,265 - 159,577,553RGD
Cytogenetic Map6q25-q26UniSTS
HuRef6156,400,499 - 156,400,787UniSTS
TNG Radiation Hybrid Map678197.0UniSTS
SHGC-145905  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376158,855,465 - 158,855,756UniSTSGRCh37
Build 366158,775,453 - 158,775,744RGDNCBI36
Celera6159,503,547 - 159,503,838RGD
Cytogenetic Map6q25-q26UniSTS
HuRef6156,327,140 - 156,327,431UniSTS
TNG Radiation Hybrid Map678232.0UniSTS
stdJ250C19SP6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376158,870,708 - 158,870,853UniSTSGRCh37
Build 366158,790,696 - 158,790,841RGDNCBI36
Celera6159,518,798 - 159,518,943RGD
Cytogenetic Map6q25-q26UniSTS
HuRef6156,342,374 - 156,342,519UniSTS
SHGC-156011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376158,838,170 - 158,838,273UniSTSGRCh37
Build 366158,758,158 - 158,758,261RGDNCBI36
Celera6159,486,252 - 159,486,355RGD
Cytogenetic Map6q25-q26UniSTS
HuRef6156,309,912 - 156,310,015UniSTS
TNG Radiation Hybrid Map678263.0UniSTS
AB055326  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376158,932,719 - 158,932,834UniSTSGRCh37
Build 366158,852,707 - 158,852,822RGDNCBI36
Celera6159,580,745 - 159,580,860RGD
HuRef6156,403,977 - 156,404,092UniSTS
RH48840  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376158,929,109 - 158,929,256UniSTSGRCh37
Build 366158,849,097 - 158,849,244RGDNCBI36
Celera6159,577,142 - 159,577,289RGD
Cytogenetic Map6q25-q26UniSTS
HuRef6156,400,376 - 156,400,523UniSTS
GeneMap99-GB4 RH Map6616.37UniSTS
NCBI RH Map61624.5UniSTS
RH46643  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376158,733,128 - 158,733,250UniSTSGRCh37
Build 366158,653,116 - 158,653,238RGDNCBI36
Celera6159,381,177 - 159,381,299RGD
Cytogenetic Map6q25-q26UniSTS
HuRef6156,205,007 - 156,205,129UniSTS
GeneMap99-GB4 RH Map6616.37UniSTS
NCBI RH Map61631.6UniSTS
D6S437  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6q25-q26UniSTS
TNG Radiation Hybrid Map678297.0UniSTS


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 visual system adipose tissue appendage entire extraembryonic component
High
Medium 129 20 200 23 284 26 818 62 1387 80 244 295 7 2 414 3
Low 2304 2657 1523 597 1379 436 3537 2107 2336 337 1205 1315 165 1202 2374 1
Below cutoff 1 308 3 2 285 2 25 7 1 5 1 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001007466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF087973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF219946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF288480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL360169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC152476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE795693 (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

RefSeq Acc Id: ENST00000367094   ⟹   ENSP00000356061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6158,312,660 - 158,508,376 (+)Ensembl
RefSeq Acc Id: ENST00000367097   ⟹   ENSP00000356064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6158,312,465 - 158,511,828 (+)Ensembl
RefSeq Acc Id: ENST00000432358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6158,282,263 - 158,312,358 (+)Ensembl
RefSeq Acc Id: ENST00000613390   ⟹   ENSP00000481804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6158,461,650 - 158,498,693 (+)Ensembl
RefSeq Acc Id: ENST00000613994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6158,310,364 - 158,312,363 (+)Ensembl
RefSeq Acc Id: ENST00000616856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6158,313,445 - 158,481,538 (+)Ensembl
RefSeq Acc Id: ENST00000620026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6158,232,236 - 158,312,662 (+)Ensembl
RefSeq Acc Id: NM_001007466   ⟹   NP_001007467
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386158,312,465 - 158,511,828 (+)NCBI
GRCh376158,653,268 - 158,932,860 (+)NCBI
Build 366158,653,680 - 158,852,848 (+)NCBI Archive
Celera6159,381,741 - 159,580,886 (+)RGD
HuRef6156,205,571 - 156,404,118 (+)ENTREZGENE
CHM1_16158,996,493 - 159,195,628 (+)NCBI
T2T-CHM13v2.06159,557,120 - 159,756,806 (+)NCBI
Sequence:
RefSeq Acc Id: NM_020245   ⟹   NP_064630
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386158,312,465 - 158,511,828 (+)NCBI
GRCh376158,653,268 - 158,932,860 (+)NCBI
Build 366158,653,680 - 158,852,848 (+)NCBI Archive
Celera6159,381,741 - 159,580,886 (+)RGD
HuRef6156,205,571 - 156,404,118 (+)ENTREZGENE
CHM1_16158,996,493 - 159,195,628 (+)NCBI
T2T-CHM13v2.06159,557,120 - 159,756,806 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535946   ⟹   XP_011534248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386158,232,195 - 158,511,828 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011070   ⟹   XP_016866559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386158,232,195 - 158,511,828 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047419079   ⟹   XP_047275035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386158,232,195 - 158,511,828 (+)NCBI
RefSeq Acc Id: XM_047419081   ⟹   XP_047275037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386158,232,195 - 158,511,828 (+)NCBI
RefSeq Acc Id: XM_047419082   ⟹   XP_047275038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386158,232,195 - 158,511,828 (+)NCBI
RefSeq Acc Id: XM_047419083   ⟹   XP_047275039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386158,232,195 - 158,511,828 (+)NCBI
RefSeq Acc Id: XM_047419084   ⟹   XP_047275040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386158,232,195 - 158,511,828 (+)NCBI
RefSeq Acc Id: XM_047419085   ⟹   XP_047275041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386158,232,195 - 158,511,828 (+)NCBI
RefSeq Acc Id: XM_047419086   ⟹   XP_047275042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386158,232,195 - 158,511,828 (+)NCBI
RefSeq Acc Id: XM_047419087   ⟹   XP_047275043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386158,232,195 - 158,511,828 (+)NCBI
RefSeq Acc Id: XM_047419088   ⟹   XP_047275044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386158,232,195 - 158,511,828 (+)NCBI
RefSeq Acc Id: XM_047419089   ⟹   XP_047275045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386158,232,195 - 158,511,828 (+)NCBI
RefSeq Acc Id: XM_054355942   ⟹   XP_054211917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06159,554,979 - 159,756,806 (+)NCBI
RefSeq Acc Id: XM_054355943   ⟹   XP_054211918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06159,477,550 - 159,756,806 (+)NCBI
RefSeq Acc Id: XM_054355944   ⟹   XP_054211919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06159,477,609 - 159,756,806 (+)NCBI
RefSeq Acc Id: XM_054355945   ⟹   XP_054211920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06159,477,562 - 159,756,806 (+)NCBI
RefSeq Acc Id: XM_054355946   ⟹   XP_054211921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06159,544,180 - 159,756,806 (+)NCBI
RefSeq Acc Id: XM_054355947   ⟹   XP_054211922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06159,477,601 - 159,756,806 (+)NCBI
RefSeq Acc Id: XM_054355948   ⟹   XP_054211923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06159,477,574 - 159,756,806 (+)NCBI
RefSeq Acc Id: XM_054355949   ⟹   XP_054211924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06159,477,610 - 159,756,806 (+)NCBI
RefSeq Acc Id: XM_054355950   ⟹   XP_054211925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06159,554,979 - 159,756,806 (+)NCBI
RefSeq Acc Id: XM_054355951   ⟹   XP_054211926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06159,476,584 - 159,756,806 (+)NCBI
RefSeq Acc Id: XM_054355952   ⟹   XP_054211927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06159,478,292 - 159,756,806 (+)NCBI
RefSeq Acc Id: XM_054355953   ⟹   XP_054211928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06159,477,550 - 159,756,806 (+)NCBI
RefSeq Acc Id: XM_054355954   ⟹   XP_054211929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06159,477,601 - 159,756,806 (+)NCBI
RefSeq Acc Id: XM_054355955   ⟹   XP_054211930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06159,477,601 - 159,756,806 (+)NCBI
RefSeq Acc Id: XM_054355956   ⟹   XP_054211931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06159,477,601 - 159,756,806 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001007467 (Get FASTA)   NCBI Sequence Viewer  
  NP_064630 (Get FASTA)   NCBI Sequence Viewer  
  XP_011534248 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866559 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275035 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275037 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275038 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275039 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275040 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275041 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275042 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275043 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275044 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275045 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211917 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211918 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211919 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211920 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211921 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211922 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211923 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211924 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211925 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211926 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211927 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211928 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211929 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211930 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211931 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF87975 (Get FASTA)   NCBI Sequence Viewer  
  AAG01020 (Get FASTA)   NCBI Sequence Viewer  
  AAI52477 (Get FASTA)   NCBI Sequence Viewer  
  BAA92635 (Get FASTA)   NCBI Sequence Viewer  
  BAG64964 (Get FASTA)   NCBI Sequence Viewer  
  EAW47661 (Get FASTA)   NCBI Sequence Viewer  
  EAW47662 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000356061
  ENSP00000356061.2
  ENSP00000356064
  ENSP00000356064.3
  ENSP00000481804.1
GenBank Protein Q9NRJ4 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_064630   ⟸   NM_020245
- Peptide Label: isoform 1
- UniProtKB: Q9HD22 (UniProtKB/Swiss-Prot),   Q5T3M3 (UniProtKB/Swiss-Prot),   Q5T3M2 (UniProtKB/Swiss-Prot),   Q9P2F0 (UniProtKB/Swiss-Prot),   Q9NRJ4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001007467   ⟸   NM_001007466
- Peptide Label: isoform 2
- UniProtKB: Q9NRJ4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011534248   ⟸   XM_011535946
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016866559   ⟸   XM_017011070
- Peptide Label: isoform X2
- UniProtKB: Q9HD22 (UniProtKB/Swiss-Prot),   Q5T3M3 (UniProtKB/Swiss-Prot),   Q5T3M2 (UniProtKB/Swiss-Prot),   Q9P2F0 (UniProtKB/Swiss-Prot),   Q9NRJ4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000481804   ⟸   ENST00000613390
RefSeq Acc Id: ENSP00000356064   ⟸   ENST00000367097
RefSeq Acc Id: ENSP00000356061   ⟸   ENST00000367094
RefSeq Acc Id: XP_047275038   ⟸   XM_047419082
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047275043   ⟸   XM_047419087
- Peptide Label: isoform X2
- UniProtKB: Q9NRJ4 (UniProtKB/Swiss-Prot),   Q9HD22 (UniProtKB/Swiss-Prot),   Q5T3M3 (UniProtKB/Swiss-Prot),   Q5T3M2 (UniProtKB/Swiss-Prot),   Q9P2F0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047275040   ⟸   XM_047419084
- Peptide Label: isoform X2
- UniProtKB: Q9NRJ4 (UniProtKB/Swiss-Prot),   Q9HD22 (UniProtKB/Swiss-Prot),   Q5T3M3 (UniProtKB/Swiss-Prot),   Q5T3M2 (UniProtKB/Swiss-Prot),   Q9P2F0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047275037   ⟸   XM_047419081
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047275042   ⟸   XM_047419086
- Peptide Label: isoform X2
- UniProtKB: Q9NRJ4 (UniProtKB/Swiss-Prot),   Q9HD22 (UniProtKB/Swiss-Prot),   Q5T3M3 (UniProtKB/Swiss-Prot),   Q5T3M2 (UniProtKB/Swiss-Prot),   Q9P2F0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047275041   ⟸   XM_047419085
- Peptide Label: isoform X2
- UniProtKB: Q9NRJ4 (UniProtKB/Swiss-Prot),   Q9HD22 (UniProtKB/Swiss-Prot),   Q5T3M3 (UniProtKB/Swiss-Prot),   Q5T3M2 (UniProtKB/Swiss-Prot),   Q9P2F0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047275035   ⟸   XM_047419079
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047275039   ⟸   XM_047419083
- Peptide Label: isoform X2
- UniProtKB: Q9NRJ4 (UniProtKB/Swiss-Prot),   Q9HD22 (UniProtKB/Swiss-Prot),   Q5T3M3 (UniProtKB/Swiss-Prot),   Q5T3M2 (UniProtKB/Swiss-Prot),   Q9P2F0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047275044   ⟸   XM_047419088
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047275045   ⟸   XM_047419089
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054211926   ⟸   XM_054355951
- Peptide Label: isoform X2
- UniProtKB: Q9NRJ4 (UniProtKB/Swiss-Prot),   Q9HD22 (UniProtKB/Swiss-Prot),   Q5T3M3 (UniProtKB/Swiss-Prot),   Q5T3M2 (UniProtKB/Swiss-Prot),   Q9P2F0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054211918   ⟸   XM_054355943
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054211928   ⟸   XM_054355953
- Peptide Label: isoform X2
- UniProtKB: Q9NRJ4 (UniProtKB/Swiss-Prot),   Q9HD22 (UniProtKB/Swiss-Prot),   Q5T3M3 (UniProtKB/Swiss-Prot),   Q5T3M2 (UniProtKB/Swiss-Prot),   Q9P2F0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054211920   ⟸   XM_054355945
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054211923   ⟸   XM_054355948
- Peptide Label: isoform X2
- UniProtKB: Q9NRJ4 (UniProtKB/Swiss-Prot),   Q9HD22 (UniProtKB/Swiss-Prot),   Q5T3M3 (UniProtKB/Swiss-Prot),   Q5T3M2 (UniProtKB/Swiss-Prot),   Q9P2F0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054211922   ⟸   XM_054355947
- Peptide Label: isoform X2
- UniProtKB: Q9NRJ4 (UniProtKB/Swiss-Prot),   Q9HD22 (UniProtKB/Swiss-Prot),   Q5T3M3 (UniProtKB/Swiss-Prot),   Q5T3M2 (UniProtKB/Swiss-Prot),   Q9P2F0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054211930   ⟸   XM_054355955
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054211931   ⟸   XM_054355956
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054211929   ⟸   XM_054355954
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054211919   ⟸   XM_054355944
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054211924   ⟸   XM_054355949
- Peptide Label: isoform X2
- UniProtKB: Q9NRJ4 (UniProtKB/Swiss-Prot),   Q9HD22 (UniProtKB/Swiss-Prot),   Q5T3M3 (UniProtKB/Swiss-Prot),   Q5T3M2 (UniProtKB/Swiss-Prot),   Q9P2F0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054211927   ⟸   XM_054355952
- Peptide Label: isoform X2
- UniProtKB: Q9NRJ4 (UniProtKB/Swiss-Prot),   Q9HD22 (UniProtKB/Swiss-Prot),   Q5T3M3 (UniProtKB/Swiss-Prot),   Q5T3M2 (UniProtKB/Swiss-Prot),   Q9P2F0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054211921   ⟸   XM_054355946
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054211917   ⟸   XM_054355942
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054211925   ⟸   XM_054355950
- Peptide Label: isoform X2
- UniProtKB: Q9NRJ4 (UniProtKB/Swiss-Prot),   Q9HD22 (UniProtKB/Swiss-Prot),   Q5T3M3 (UniProtKB/Swiss-Prot),   Q5T3M2 (UniProtKB/Swiss-Prot),   Q9P2F0 (UniProtKB/Swiss-Prot)
Protein Domains
SOCS box

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NRJ4-F1-model_v2 AlphaFold Q9NRJ4 1-1543 view protein structure

Promoters
RGD ID:7209545
Promoter ID:EPDNEW_H10519
Type:initiation region
Name:TULP4_1
Description:tubby like protein 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10520  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386158,232,195 - 158,232,255EPDNEW
RGD ID:7209549
Promoter ID:EPDNEW_H10520
Type:initiation region
Name:TULP4_2
Description:tubby like protein 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10519  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386158,312,465 - 158,312,525EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15530 AgrOrtholog
COSMIC TULP4 COSMIC
Ensembl Genes ENSG00000130338 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000367094 ENTREZGENE
  ENST00000367094.6 UniProtKB/Swiss-Prot
  ENST00000367097 ENTREZGENE
  ENST00000367097.8 UniProtKB/Swiss-Prot
  ENST00000613390.1 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000130338 GTEx
HGNC ID HGNC:15530 ENTREZGENE
Human Proteome Map TULP4 Human Proteome Map
InterPro SOCS_box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubby-like_C UniProtKB/Swiss-Prot
  Tubby_C UniProtKB/Swiss-Prot
  Tumour_necrosis_fac-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot
  WD40_repeat UniProtKB/Swiss-Prot
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:56995 UniProtKB/Swiss-Prot
NCBI Gene 56995 ENTREZGENE
OMIM 619442 OMIM
PANTHER TUBBY-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TUBBY-RELATED PROTEIN 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SOCS_box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tub UniProtKB/Swiss-Prot
PharmGKB PA134880863 PharmGKB
PROSITE SOCS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_2 UniProtKB/Swiss-Prot
  WD_REPEATS_REGION UniProtKB/Swiss-Prot
SMART SOCS_box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49842 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50978 UniProtKB/Swiss-Prot
  SSF54518 UniProtKB/Swiss-Prot
UniProt A0A087WYH3_HUMAN UniProtKB/TrEMBL
  Q5T3M2 ENTREZGENE
  Q5T3M3 ENTREZGENE
  Q9HD22 ENTREZGENE
  Q9NRJ4 ENTREZGENE
  Q9P2F0 ENTREZGENE
  TULP4_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q5T3M2 UniProtKB/Swiss-Prot
  Q5T3M3 UniProtKB/Swiss-Prot
  Q9HD22 UniProtKB/Swiss-Prot
  Q9P2F0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-04-16 TULP4  TUB like protein 4    tubby like protein 4  Symbol and/or name change 5135510 APPROVED