TMEM38B (transmembrane protein 38B) - Rat Genome Database

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Gene: TMEM38B (transmembrane protein 38B) Homo sapiens
Analyze
Symbol: TMEM38B
Name: transmembrane protein 38B
RGD ID: 1347417
HGNC Page HGNC:25535
Description: Predicted to enable potassium channel activity. Predicted to be involved in potassium ion transmembrane transport. Predicted to act upstream of or within several processes, including cellular response to caffeine; lung development; and regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion. Located in nucleus. Implicated in osteogenesis imperfecta type 14.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bA219P18.1; C9orf87; D4Ertd89e; FLJ10493; OI14; RP11-219P18.1; TRIC-B; TRICB; trimeric intracellular cation channel type B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: TMEM38BP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389105,694,541 - 105,776,629 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9105,694,541 - 105,776,629 (+)EnsemblGRCh38hg38GRCh38
GRCh379108,456,822 - 108,538,910 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369107,496,646 - 107,577,265 (+)NCBINCBI36Build 36hg18NCBI36
Build 349105,536,379 - 105,616,999NCBI
Celera978,961,966 - 79,042,583 (+)NCBICelera
Cytogenetic Map9q31.2NCBI
HuRef978,058,333 - 78,140,432 (+)NCBIHuRef
CHM1_19108,603,836 - 108,685,928 (+)NCBICHM1_1
T2T-CHM13v2.09117,869,221 - 117,951,308 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:8889548   PMID:14702039   PMID:17207965   PMID:17611541   PMID:18464913   PMID:18978678   PMID:19095005   PMID:19322201   PMID:19448620   PMID:20800603   PMID:21102462   PMID:21630459  
PMID:22190034   PMID:22589738   PMID:23054245   PMID:23316006   PMID:23449627   PMID:25231870   PMID:26186194   PMID:26638075   PMID:26911354   PMID:27441836   PMID:28514442   PMID:28692057  
PMID:29117863   PMID:29180619   PMID:29395067   PMID:31056421   PMID:32296183   PMID:32788342   PMID:32877691   PMID:33961781   PMID:34079125   PMID:34432599   PMID:34672954   PMID:35271311  
PMID:35337019   PMID:35696571   PMID:36180527   PMID:37348683   PMID:37931956  


Genomics

Comparative Map Data
TMEM38B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389105,694,541 - 105,776,629 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9105,694,541 - 105,776,629 (+)EnsemblGRCh38hg38GRCh38
GRCh379108,456,822 - 108,538,910 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369107,496,646 - 107,577,265 (+)NCBINCBI36Build 36hg18NCBI36
Build 349105,536,379 - 105,616,999NCBI
Celera978,961,966 - 79,042,583 (+)NCBICelera
Cytogenetic Map9q31.2NCBI
HuRef978,058,333 - 78,140,432 (+)NCBIHuRef
CHM1_19108,603,836 - 108,685,928 (+)NCBICHM1_1
T2T-CHM13v2.09117,869,221 - 117,951,308 (+)NCBIT2T-CHM13v2.0
Tmem38b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39453,825,988 - 53,862,019 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl453,826,045 - 53,862,019 (+)EnsemblGRCm39 Ensembl
GRCm38453,825,988 - 53,862,019 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl453,826,045 - 53,862,019 (+)EnsemblGRCm38mm10GRCm38
MGSCv37453,838,917 - 53,874,890 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36453,847,162 - 53,881,691 (+)NCBIMGSCv36mm8
Celera453,777,127 - 53,813,113 (+)NCBICelera
Cytogenetic Map4B2NCBI
cM Map428.76NCBI
Tmem38b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8573,255,662 - 73,291,383 (+)NCBIGRCr8
mRatBN7.2568,460,304 - 68,496,026 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl568,460,304 - 68,496,025 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx570,354,532 - 70,390,173 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0572,171,549 - 72,207,203 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0572,143,355 - 72,178,996 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0570,639,156 - 70,675,055 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl570,639,156 - 70,675,054 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0574,816,786 - 74,852,685 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4571,275,819 - 71,311,539 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1571,280,931 - 71,316,651 (+)NCBI
Celera567,353,639 - 67,389,331 (+)NCBICelera
Cytogenetic Map5q24NCBI
Tmem38b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541920,812,702 - 20,878,599 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541920,811,931 - 20,844,420 (-)NCBIChiLan1.0ChiLan1.0
TMEM38B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21133,620,435 - 33,704,728 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1933,622,803 - 33,707,073 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0976,854,177 - 76,938,334 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19104,980,839 - 105,128,988 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9104,980,935 - 105,128,988 (+)Ensemblpanpan1.1panPan2
TMEM38B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11161,511,756 - 61,561,987 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1161,511,750 - 61,560,556 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1159,972,149 - 60,025,713 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01162,647,940 - 62,698,349 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1162,648,021 - 62,701,687 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11161,173,131 - 61,226,785 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01161,185,173 - 61,235,604 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01161,885,749 - 61,937,757 (+)NCBIUU_Cfam_GSD_1.0
Tmem38b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947176,713,120 - 176,764,789 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365596,500,190 - 6,553,513 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365596,501,890 - 6,553,446 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMEM38B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1246,973,436 - 247,027,527 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11246,973,447 - 247,024,019 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21276,767,826 - 276,818,432 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TMEM38B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11233,759,311 - 33,840,357 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1233,759,157 - 33,840,009 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660358,801,223 - 8,880,353 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tmem38b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247585,662,661 - 5,719,865 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247585,664,287 - 5,720,061 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TMEM38B
138 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_018112.3(TMEM38B):c.454+279_543-5092delinsAATTAAGGTATA indel Osteogenesis imperfecta type 14 [RCV000032690] Chr9:105722000..105742981 [GRCh38]
Chr9:108484281..108505262 [GRCh37]
Chr9:9q31.2		 pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000050315] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1 copy number loss See cases [RCV000052921] Chr9:99349916..115767475 [GRCh38]
Chr9:102112198..118529754 [GRCh37]
Chr9:101152019..117569575 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.32-31.2(chr9:94184266-106730550)x3 copy number gain See cases [RCV000053774] Chr9:94184266..106730550 [GRCh38]
Chr9:96946548..109492831 [GRCh37]
Chr9:95986369..108532652 [NCBI36]
Chr9:9q22.32-31.2		 pathogenic
GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3 copy number gain See cases [RCV000053752] Chr9:88522292..113687796 [GRCh38]
Chr9:91137207..116450076 [GRCh37]
Chr9:90327027..115489897 [NCBI36]
Chr9:9q22.1-32		 pathogenic
NM_018112.3(TMEM38B):c.512C>T (p.Pro171Leu) single nucleotide variant Inborn genetic diseases [RCV003088511]|not provided [RCV003088510] Chr9:105722591 [GRCh38]
Chr9:108484872 [GRCh37]
Chr9:107524693 [NCBI36]
Chr9:9q31.2		 uncertain significance|not provided
NM_018112.3(TMEM38B):c.112+83C>T single nucleotide variant not provided [RCV001564967] Chr9:105694855 [GRCh38]
Chr9:108457136 [GRCh37]
Chr9:9q31.2		 likely benign
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1 copy number loss See cases [RCV000134375] Chr9:95061030..108695569 [GRCh38]
Chr9:97823312..111457849 [GRCh37]
Chr9:96863133..110497670 [NCBI36]
Chr9:9q22.32-31.3		 pathogenic
GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1 copy number loss See cases [RCV000134976] Chr9:103767420..112984794 [GRCh38]
Chr9:106529701..115747074 [GRCh37]
Chr9:105569522..114786895 [NCBI36]
Chr9:9q31.1-32		 pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1 copy number loss See cases [RCV000138281] Chr9:99024205..109947890 [GRCh38]
Chr9:101786487..112710170 [GRCh37]
Chr9:100826308..111749991 [NCBI36]
Chr9:9q22.33-31.3		 pathogenic|likely pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3		 pathogenic
GRCh38/hg38 9q31.1-31.2(chr9:104810184-107473921)x3 copy number gain See cases [RCV000140793] Chr9:104810184..107473921 [GRCh38]
Chr9:107572465..110236202 [GRCh37]
Chr9:106612286..109276023 [NCBI36]
Chr9:9q31.1-31.2		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q31.1-31.2(chr9:104036284-105935181)x3 copy number gain See cases [RCV000143264] Chr9:104036284..105935181 [GRCh38]
Chr9:106798565..108697462 [GRCh37]
Chr9:105838386..107737283 [NCBI36]
Chr9:9q31.1-31.2		 uncertain significance
GRCh38/hg38 9q31.2(chr9:105721899-105741297)x0 copy number loss See cases [RCV000143699] Chr9:105721899..105741297 [GRCh38]
Chr9:108484180..108503578 [GRCh37]
Chr9:107524001..107543399 [NCBI36]
Chr9:9q31.2		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000148264] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.2(chr9:108470640-108582883)x1 copy number loss See cases [RCV000446846] Chr9:108470640..108582883 [GRCh37]
Chr9:9q31.2		 likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)x1 copy number loss See cases [RCV000447763] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
GRCh37/hg19 9q31.2(chr9:108444651-108476067)x1 copy number loss See cases [RCV000447706] Chr9:108444651..108476067 [GRCh37]
Chr9:9q31.2		 uncertain significance
NC_000009.11:g.(?_102339410)_(109549354_?)del deletion Schizophrenia [RCV000416788] Chr9:102339410..109549354 [GRCh37]
Chr9:101379231..108589175 [NCBI36]
Chr9:9q22.33-31.2		 likely pathogenic
GRCh37/hg19 9q31.1-31.3(chr9:103271401-113948226)x1 copy number loss See cases [RCV000447957] Chr9:103271401..113948226 [GRCh37]
Chr9:9q31.1-31.3		 pathogenic
NM_018112.3(TMEM38B):c.417T>C (p.Asn139=) single nucleotide variant not provided [RCV000949756]|not specified [RCV000603912] Chr9:105721684 [GRCh38]
Chr9:108483965 [GRCh37]
Chr9:9q31.2		 benign
NM_018112.3(TMEM38B):c.836C>A (p.Ser279Ter) single nucleotide variant not provided [RCV000578690]|not specified [RCV003117345] Chr9:105774040 [GRCh38]
Chr9:108536321 [GRCh37]
Chr9:9q31.2		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
NM_018112.3(TMEM38B):c.761G>C (p.Cys254Ser) single nucleotide variant Osteogenesis imperfecta [RCV002279433]|not provided [RCV001573623]|not specified [RCV000609411] Chr9:105773965 [GRCh38]
Chr9:108536246 [GRCh37]
Chr9:9q31.2		 benign|likely benign
NM_018112.3(TMEM38B):c.179G>T (p.Gly60Val) single nucleotide variant Inborn genetic diseases [RCV003266725] Chr9:105705663 [GRCh38]
Chr9:108467944 [GRCh37]
Chr9:9q31.2		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.1-31.3(chr9:106487247-114541579)x1 copy number loss not provided [RCV000683163] Chr9:106487247..114541579 [GRCh37]
Chr9:9q31.1-31.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_018112.3(TMEM38B):c.661-125G>A single nucleotide variant not provided [RCV001584869] Chr9:105773740 [GRCh38]
Chr9:108536021 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.*27A>C single nucleotide variant not provided [RCV001610111] Chr9:105774107 [GRCh38]
Chr9:108536388 [GRCh37]
Chr9:9q31.2		 benign
NM_018112.3(TMEM38B):c.-54A>C single nucleotide variant not provided [RCV001681454] Chr9:105694607 [GRCh38]
Chr9:108456888 [GRCh37]
Chr9:9q31.2		 benign
NC_000009.12:g.105694471G>T single nucleotide variant not provided [RCV001546545] Chr9:105694471 [GRCh38]
Chr9:108456752 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.750G>A (p.Pro250=) single nucleotide variant Osteogenesis imperfecta type 14 [RCV003653483]|not provided [RCV001567567] Chr9:105773954 [GRCh38]
Chr9:108536235 [GRCh37]
Chr9:9q31.2		 benign|likely benign
NM_018112.3(TMEM38B):c.195C>T (p.Ser65=) single nucleotide variant not provided [RCV000973435] Chr9:105705679 [GRCh38]
Chr9:108467960 [GRCh37]
Chr9:9q31.2		 benign|likely benign
NM_018112.3(TMEM38B):c.455-10A>G single nucleotide variant not provided [RCV000973436] Chr9:105722524 [GRCh38]
Chr9:108484805 [GRCh37]
Chr9:9q31.2		 benign|likely benign
NM_018112.3(TMEM38B):c.799G>A (p.Val267Ile) single nucleotide variant Inborn genetic diseases [RCV002536814]|Osteogenesis imperfecta type 14 [RCV003653417]|TMEM38B-related condition [RCV003940375]|not provided [RCV000879300] Chr9:105774003 [GRCh38]
Chr9:108536284 [GRCh37]
Chr9:9q31.2		 benign|likely benign|uncertain significance
NM_018112.3(TMEM38B):c.113-7A>G single nucleotide variant Osteogenesis imperfecta [RCV002279609]|Osteogenesis imperfecta type 14 [RCV003653418]|not provided [RCV000886136]|not specified [RCV001579931] Chr9:105705590 [GRCh38]
Chr9:108467871 [GRCh37]
Chr9:9q31.2		 benign|likely benign
NM_018112.3(TMEM38B):c.803G>A (p.Gly268Glu) single nucleotide variant TMEM38B-related condition [RCV003920844]|not provided [RCV000896263]|not specified [RCV003387945] Chr9:105774007 [GRCh38]
Chr9:108536288 [GRCh37]
Chr9:9q31.2		 likely benign
GRCh37/hg19 9q31.2(chr9:108444651-108476067)x1 copy number loss not provided [RCV000849085] Chr9:108444651..108476067 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_018112.3(TMEM38B):c.113-271A>G single nucleotide variant not provided [RCV000828744] Chr9:105705326 [GRCh38]
Chr9:108467607 [GRCh37]
Chr9:9q31.2		 benign
NM_018112.3(TMEM38B):c.112+302G>A single nucleotide variant not provided [RCV000828742] Chr9:105695074 [GRCh38]
Chr9:108457355 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.270-229G>A single nucleotide variant not provided [RCV000828748] Chr9:105721308 [GRCh38]
Chr9:108483589 [GRCh37]
Chr9:9q31.2		 benign
NM_018112.3(TMEM38B):c.269+196G>A single nucleotide variant not provided [RCV001581831] Chr9:105705949 [GRCh38]
Chr9:108468230 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.269+95C>T single nucleotide variant not provided [RCV000834292] Chr9:105705848 [GRCh38]
Chr9:108468129 [GRCh37]
Chr9:9q31.2		 benign
GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1 copy number loss See cases [RCV001194520] Chr9:96126075..108535272 [GRCh37]
Chr9:9q22.31-31.2		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
GRCh37/hg19 9q31.2(chr9:108444651-108476067)x1 copy number loss not provided [RCV000849104] Chr9:108444651..108476067 [GRCh37]
Chr9:9q31.2		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_018112.3(TMEM38B):c.5A>C (p.Asp2Ala) single nucleotide variant Inborn genetic diseases [RCV003275024] Chr9:105694665 [GRCh38]
Chr9:108456946 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.661-47C>G single nucleotide variant not provided [RCV001568563] Chr9:105773818 [GRCh38]
Chr9:108536099 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.542+272G>A single nucleotide variant not provided [RCV001550948] Chr9:105722893 [GRCh38]
Chr9:108485174 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.661-125G>T single nucleotide variant not provided [RCV001577642] Chr9:105773740 [GRCh38]
Chr9:108536021 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.455-89A>G single nucleotide variant not provided [RCV001558180] Chr9:105722445 [GRCh38]
Chr9:108484726 [GRCh37]
Chr9:9q31.2		 likely benign
NC_000009.12:g.105694305A>G single nucleotide variant not provided [RCV001640050] Chr9:105694305 [GRCh38]
Chr9:108456586 [GRCh37]
Chr9:9q31.2		 benign
NM_018112.3(TMEM38B):c.*31A>T single nucleotide variant not provided [RCV001559738] Chr9:105774111 [GRCh38]
Chr9:108536392 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.334C>T (p.Leu112=) single nucleotide variant not provided [RCV000930851] Chr9:105721601 [GRCh38]
Chr9:108483882 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.661-8del deletion Osteogenesis imperfecta type 14 [RCV001197401]|TMEM38B-related condition [RCV003945913] Chr9:105773852 [GRCh38]
Chr9:108536133 [GRCh37]
Chr9:9q31.2		 likely benign|uncertain significance
NM_018112.3(TMEM38B):c.748C>T (p.Pro250Ser) single nucleotide variant Osteogenesis imperfecta [RCV002279614]|TMEM38B-related condition [RCV003957920]|not provided [RCV000889340]|not specified [RCV003226405] Chr9:105773952 [GRCh38]
Chr9:108536233 [GRCh37]
Chr9:9q31.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018112.3(TMEM38B):c.336A>C (p.Leu112=) single nucleotide variant not provided [RCV000913765] Chr9:105721603 [GRCh38]
Chr9:108483884 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.452G>A (p.Arg151Gln) single nucleotide variant not provided [RCV000911672] Chr9:105721719 [GRCh38]
Chr9:108484000 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.495A>G (p.Val165=) single nucleotide variant not provided [RCV000911673] Chr9:105722574 [GRCh38]
Chr9:108484855 [GRCh37]
Chr9:9q31.2		 benign|likely benign
NM_018112.3(TMEM38B):c.662T>C (p.Ile221Thr) single nucleotide variant Osteogenesis imperfecta [RCV002276872]|Osteogenesis imperfecta type 14 [RCV001728180]|not provided [RCV002073410] Chr9:105773866 [GRCh38]
Chr9:108536147 [GRCh37]
Chr9:9q31.2		 likely benign|uncertain significance
NM_018112.3(TMEM38B):c.543-304A>G single nucleotide variant not provided [RCV001557947] Chr9:105747769 [GRCh38]
Chr9:108510050 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.660+296dup duplication not provided [RCV001658921] Chr9:105748485..105748486 [GRCh38]
Chr9:108510766..108510767 [GRCh37]
Chr9:9q31.2		 benign
NM_018112.3(TMEM38B):c.269+235C>T single nucleotide variant not provided [RCV001677556] Chr9:105705988 [GRCh38]
Chr9:108468269 [GRCh37]
Chr9:9q31.2		 benign
NM_018112.3(TMEM38B):c.*70del deletion not provided [RCV001657058] Chr9:105774146 [GRCh38]
Chr9:108536427 [GRCh37]
Chr9:9q31.2		 benign
NM_018112.3(TMEM38B):c.113-321G>A single nucleotide variant not provided [RCV001617914] Chr9:105705276 [GRCh38]
Chr9:108467557 [GRCh37]
Chr9:9q31.2		 benign
GRCh37/hg19 9q31.2(chr9:108484815-108484902)x0 copy number loss not provided [RCV001093284] Chr9:108484815..108484902 [GRCh37]
Chr9:9q31.2		 pathogenic
NC_000009.12:g.105694445G>C single nucleotide variant not provided [RCV001707387] Chr9:105694445 [GRCh38]
Chr9:108456726 [GRCh37]
Chr9:9q31.2		 benign
NM_018112.3(TMEM38B):c.*35T>A single nucleotide variant not provided [RCV001614345] Chr9:105774115 [GRCh38]
Chr9:108536396 [GRCh37]
Chr9:9q31.2		 benign
NC_000009.12:g.105694295A>G single nucleotide variant not provided [RCV001713597] Chr9:105694295 [GRCh38]
Chr9:108456576 [GRCh37]
Chr9:9q31.2		 benign
NM_018112.3(TMEM38B):c.37T>C (p.Ser13Pro) single nucleotide variant not provided [RCV001964040] Chr9:105694697 [GRCh38]
Chr9:108456978 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.43A>C (p.Thr15Pro) single nucleotide variant not provided [RCV001357781] Chr9:105694703 [GRCh38]
Chr9:108456984 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.875A>G (p.Ter292=) single nucleotide variant Osteogenesis imperfecta type 14 [RCV002498132]|not provided [RCV002172271] Chr9:105774079 [GRCh38]
Chr9:108536360 [GRCh37]
Chr9:9q31.2		 pathogenic|likely benign
NM_018112.3(TMEM38B):c.543-10T>G single nucleotide variant Osteogenesis imperfecta type 14 [RCV001330816]|not provided [RCV002070166] Chr9:105748063 [GRCh38]
Chr9:108510344 [GRCh37]
Chr9:9q31.2		 likely benign|uncertain significance
NM_018112.3(TMEM38B):c.660+209_660+211del deletion not provided [RCV001695513] Chr9:105748398..105748400 [GRCh38]
Chr9:108510679..108510681 [GRCh37]
Chr9:9q31.2		 benign
NM_018112.3(TMEM38B):c.270-77G>A single nucleotide variant not provided [RCV001617595] Chr9:105721460 [GRCh38]
Chr9:108483741 [GRCh37]
Chr9:9q31.2		 benign
NM_018112.3(TMEM38B):c.113-28C>G single nucleotide variant not provided [RCV001674175] Chr9:105705569 [GRCh38]
Chr9:108467850 [GRCh37]
Chr9:9q31.2		 benign
NM_018112.3(TMEM38B):c.526T>C (p.Trp176Arg) single nucleotide variant Osteogenesis imperfecta [RCV002277855] Chr9:105722605 [GRCh38]
Chr9:108484886 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.390C>A (p.Val130=) single nucleotide variant Osteogenesis imperfecta [RCV002277854] Chr9:105721657 [GRCh38]
Chr9:108483938 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.507G>A (p.Trp169Ter) single nucleotide variant Osteogenesis imperfecta type 14 [RCV001785068]|not provided [RCV001885170] Chr9:105722586 [GRCh38]
Chr9:108484867 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_018112.3(TMEM38B):c.701C>G (p.Ala234Gly) single nucleotide variant not provided [RCV001733342] Chr9:105773905 [GRCh38]
Chr9:108536186 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.113-37T>G single nucleotide variant not provided [RCV001767290] Chr9:105705560 [GRCh38]
Chr9:108467841 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.300A>G (p.Leu100=) single nucleotide variant Osteogenesis imperfecta [RCV002276896]|not provided [RCV001787579] Chr9:105721567 [GRCh38]
Chr9:108483848 [GRCh37]
Chr9:9q31.2		 likely benign|uncertain significance
NM_018112.3(TMEM38B):c.112G>A (p.Gly38Arg) single nucleotide variant not provided [RCV002003869] Chr9:105694772 [GRCh38]
Chr9:108457053 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.548C>A (p.Ala183Asp) single nucleotide variant not provided [RCV001864152] Chr9:105748078 [GRCh38]
Chr9:108510359 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.345G>A (p.Ser115=) single nucleotide variant not provided [RCV002045536] Chr9:105721612 [GRCh38]
Chr9:108483893 [GRCh37]
Chr9:9q31.2		 likely benign|uncertain significance
NM_018112.3(TMEM38B):c.95C>A (p.Ala32Glu) single nucleotide variant not provided [RCV002043179] Chr9:105694755 [GRCh38]
Chr9:108457036 [GRCh37]
Chr9:9q31.2		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.2(chr9:108494774-108528915) copy number loss not specified [RCV002052827] Chr9:108494774..108528915 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.794A>G (p.Asn265Ser) single nucleotide variant Inborn genetic diseases [RCV002592638]|not provided [RCV001983862] Chr9:105773998 [GRCh38]
Chr9:108536279 [GRCh37]
Chr9:9q31.2		 uncertain significance
GRCh37/hg19 9q31.2(chr9:108444651-108476067) copy number loss not specified [RCV002052826] Chr9:108444651..108476067 [GRCh37]
Chr9:9q31.2		 uncertain significance
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089) copy number loss not specified [RCV002052825] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
NM_018112.3(TMEM38B):c.818A>G (p.Lys273Arg) single nucleotide variant Inborn genetic diseases [RCV003289216]|not provided [RCV001909300]|not specified [RCV003331231] Chr9:105774022 [GRCh38]
Chr9:108536303 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.412A>G (p.Lys138Glu) single nucleotide variant not provided [RCV002039728] Chr9:105721679 [GRCh38]
Chr9:108483960 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.589C>G (p.His197Asp) single nucleotide variant not provided [RCV002006491] Chr9:105748119 [GRCh38]
Chr9:108510400 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.163A>G (p.Met55Val) single nucleotide variant not provided [RCV002042638] Chr9:105705647 [GRCh38]
Chr9:108467928 [GRCh37]
Chr9:9q31.2		 uncertain significance
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
NM_018112.3(TMEM38B):c.490T>A (p.Leu164Met) single nucleotide variant not provided [RCV001968840] Chr9:105722569 [GRCh38]
Chr9:108484850 [GRCh37]
Chr9:9q31.2		 uncertain significance
GRCh37/hg19 9q31.1-31.2(chr9:102858276-110624997)x3 copy number gain not provided [RCV001834515] Chr9:102858276..110624997 [GRCh37]
Chr9:9q31.1-31.2		 uncertain significance
NM_018112.3(TMEM38B):c.466A>G (p.Thr156Ala) single nucleotide variant not provided [RCV001971804] Chr9:105722545 [GRCh38]
Chr9:108484826 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.618T>A (p.His206Gln) single nucleotide variant not provided [RCV001879309] Chr9:105748148 [GRCh38]
Chr9:108510429 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.38C>T (p.Ser13Phe) single nucleotide variant not provided [RCV002017526] Chr9:105694698 [GRCh38]
Chr9:108456979 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.86C>T (p.Ser29Leu) single nucleotide variant not provided [RCV001990684] Chr9:105694746 [GRCh38]
Chr9:108457027 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.128C>T (p.Ala43Val) single nucleotide variant Inborn genetic diseases [RCV003170129]|not provided [RCV001980172] Chr9:105705612 [GRCh38]
Chr9:108467893 [GRCh37]
Chr9:9q31.2		 uncertain significance
NC_000009.11:g.(?_108358859)_(108510491_?)dup duplication Walker-Warburg congenital muscular dystrophy [RCV002010805]|not provided [RCV002010806] Chr9:108358859..108510491 [GRCh37]
Chr9:9q31.2		 uncertain significance|no classifications from unflagged records
NM_018112.3(TMEM38B):c.166C>T (p.Leu56Phe) single nucleotide variant not provided [RCV001875151] Chr9:105705650 [GRCh38]
Chr9:108467931 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.832G>T (p.Ala278Ser) single nucleotide variant not provided [RCV001877112] Chr9:105774036 [GRCh38]
Chr9:108536317 [GRCh37]
Chr9:9q31.2		 uncertain significance
NC_000009.11:g.(?_108337314)_(108468054_?)del deletion Walker-Warburg congenital muscular dystrophy [RCV003120782] Chr9:108337314..108468054 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_018112.3(TMEM38B):c.419G>A (p.Gly140Asp) single nucleotide variant not provided [RCV001897684] Chr9:105721686 [GRCh38]
Chr9:108483967 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.134A>G (p.Lys45Arg) single nucleotide variant not provided [RCV001939068] Chr9:105705618 [GRCh38]
Chr9:108467899 [GRCh37]
Chr9:9q31.2		 uncertain significance
NC_000009.11:g.(?_108483798)_(108484922_?)del deletion not provided [RCV001921574] Chr9:108483798..108484922 [GRCh37]
Chr9:9q31.2		 pathogenic
NC_000009.11:g.(?_108536126)_(108536361_?)del deletion not provided [RCV001923101] Chr9:108536126..108536361 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.382G>A (p.Gly128Ser) single nucleotide variant not provided [RCV001898509] Chr9:105721649 [GRCh38]
Chr9:108483930 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.505T>G (p.Trp169Gly) single nucleotide variant not provided [RCV001994059] Chr9:105722584 [GRCh38]
Chr9:108484865 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.274A>G (p.Ile92Val) single nucleotide variant not provided [RCV001916484] Chr9:105721541 [GRCh38]
Chr9:108483822 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.269+14A>G single nucleotide variant not provided [RCV002208126] Chr9:105705767 [GRCh38]
Chr9:108468048 [GRCh37]
Chr9:9q31.2		 benign
NM_018112.3(TMEM38B):c.848A>G (p.Lys283Arg) single nucleotide variant not provided [RCV002224153] Chr9:105774052 [GRCh38]
Chr9:108536333 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.543-16T>C single nucleotide variant not provided [RCV002133866] Chr9:105748057 [GRCh38]
Chr9:108510338 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.660+20A>G single nucleotide variant not provided [RCV002133915] Chr9:105748210 [GRCh38]
Chr9:108510491 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.324A>G (p.Leu108=) single nucleotide variant not provided [RCV002210560] Chr9:105721591 [GRCh38]
Chr9:108483872 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.220T>C (p.Leu74=) single nucleotide variant not provided [RCV002178852] Chr9:105705704 [GRCh38]
Chr9:108467985 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.72G>A (p.Ala24=) single nucleotide variant not provided [RCV002123418] Chr9:105694732 [GRCh38]
Chr9:108457013 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.493G>C (p.Val165Leu) single nucleotide variant not provided [RCV002100366] Chr9:105722572 [GRCh38]
Chr9:108484853 [GRCh37]
Chr9:9q31.2		 benign
NM_018112.3(TMEM38B):c.270-4T>G single nucleotide variant not provided [RCV002097791] Chr9:105721533 [GRCh38]
Chr9:108483814 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.455-8A>G single nucleotide variant not provided [RCV002098982] Chr9:105722526 [GRCh38]
Chr9:108484807 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.454+12A>G single nucleotide variant not provided [RCV002217858] Chr9:105721733 [GRCh38]
Chr9:108484014 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.112+10G>A single nucleotide variant not provided [RCV002119281] Chr9:105694782 [GRCh38]
Chr9:108457063 [GRCh37]
Chr9:9q31.2		 likely benign
NC_000009.11:g.(?_108456942)_(108536361_?)del deletion not provided [RCV003119878] Chr9:108456942..108536361 [GRCh37]
Chr9:9q31.2		 pathogenic
NC_000009.11:g.(?_108467858)_(108536361_?)del deletion not provided [RCV003119879] Chr9:108467858..108536361 [GRCh37]
Chr9:9q31.2		 pathogenic
NC_000009.11:g.(?_108536126)_(108536361_?)dup duplication not provided [RCV003119880] Chr9:108536126..108536361 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.3G>A (p.Met1Ile) single nucleotide variant not specified [RCV003123508] Chr9:105694663 [GRCh38]
Chr9:108456944 [GRCh37]
Chr9:9q31.2		 uncertain significance
NC_000009.11:g.(?_108358859)_(108484922_?)del deletion Walker-Warburg congenital muscular dystrophy [RCV003122460] Chr9:108358859..108484922 [GRCh37]
Chr9:9q31.2		 pathogenic
NC_000009.11:g.(?_107546596)_(108536361_?)dup duplication Walker-Warburg congenital muscular dystrophy [RCV003122463] Chr9:107546596..108536361 [GRCh37]
Chr9:9q31.1-31.2		 uncertain significance
NM_018112.3(TMEM38B):c.319T>C (p.Tyr107His) single nucleotide variant not provided [RCV003096040]|not specified [RCV002266499] Chr9:105721586 [GRCh38]
Chr9:108483867 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.-10G>A single nucleotide variant not specified [RCV002266500] Chr9:105694651 [GRCh38]
Chr9:108456932 [GRCh37]
Chr9:9q31.2		 uncertain significance
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
NC_000009.11:g.(108510472_108536145)_(108538893_?)del deletion not specified [RCV002282911] Chr9:108536145..108538893 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.341C>T (p.Ala114Val) single nucleotide variant Osteogenesis imperfecta [RCV002277853]|not provided [RCV003096244] Chr9:105721608 [GRCh38]
Chr9:108483889 [GRCh37]
Chr9:9q31.2		 likely benign
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NC_000009.11:g.(?_108456805)_(108468035_108483817)del deletion Osteogenesis imperfecta [RCV002308612] Chr9:108456805..108468035 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_018112.3(TMEM38B):c.703C>T (p.Pro235Ser) single nucleotide variant Inborn genetic diseases [RCV002837302] Chr9:105773907 [GRCh38]
Chr9:108536188 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.153G>T (p.Trp51Cys) single nucleotide variant not provided [RCV002750263] Chr9:105705637 [GRCh38]
Chr9:108467918 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.647T>C (p.Ile216Thr) single nucleotide variant not provided [RCV002995778] Chr9:105748177 [GRCh38]
Chr9:108510458 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.873A>G (p.Glu291=) single nucleotide variant not provided [RCV002614079] Chr9:105774077 [GRCh38]
Chr9:108536358 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.455-21_455-17del deletion not provided [RCV002881772] Chr9:105722511..105722515 [GRCh38]
Chr9:108484792..108484796 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.835T>A (p.Ser279Thr) single nucleotide variant not provided [RCV002731468] Chr9:105774039 [GRCh38]
Chr9:108536320 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.103C>A (p.Arg35Ser) single nucleotide variant Inborn genetic diseases [RCV002845819] Chr9:105694763 [GRCh38]
Chr9:108457044 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.335T>C (p.Leu112Pro) single nucleotide variant Inborn genetic diseases [RCV003358042]|not provided [RCV002999221] Chr9:105721602 [GRCh38]
Chr9:108483883 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.311G>T (p.Gly104Val) single nucleotide variant not provided [RCV002691079] Chr9:105721578 [GRCh38]
Chr9:108483859 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.392C>T (p.Thr131Ile) single nucleotide variant not provided [RCV002638907] Chr9:105721659 [GRCh38]
Chr9:108483940 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.141T>C (p.Pro47=) single nucleotide variant not provided [RCV002622206] Chr9:105705625 [GRCh38]
Chr9:108467906 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.210A>G (p.Ala70=) single nucleotide variant not provided [RCV002848287] Chr9:105705694 [GRCh38]
Chr9:108467975 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.33C>G (p.Ala11=) single nucleotide variant not provided [RCV002829656] Chr9:105694693 [GRCh38]
Chr9:108456974 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.291G>A (p.Pro97=) single nucleotide variant not provided [RCV002985585] Chr9:105721558 [GRCh38]
Chr9:108483839 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.857A>C (p.His286Pro) single nucleotide variant Inborn genetic diseases [RCV002830552] Chr9:105774061 [GRCh38]
Chr9:108536342 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.129A>G (p.Ala43=) single nucleotide variant not provided [RCV002625960] Chr9:105705613 [GRCh38]
Chr9:108467894 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.290C>T (p.Pro97Leu) single nucleotide variant not provided [RCV002954345] Chr9:105721557 [GRCh38]
Chr9:108483838 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.449C>T (p.Ala150Val) single nucleotide variant not provided [RCV002917602] Chr9:105721716 [GRCh38]
Chr9:108483997 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.185G>A (p.Gly62Glu) single nucleotide variant not provided [RCV002958322] Chr9:105705669 [GRCh38]
Chr9:108467950 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.437C>T (p.Ala146Val) single nucleotide variant not provided [RCV002574369] Chr9:105721704 [GRCh38]
Chr9:108483985 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.270-19G>T single nucleotide variant not provided [RCV002626042] Chr9:105721518 [GRCh38]
Chr9:108483799 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.548C>G (p.Ala183Gly) single nucleotide variant not provided [RCV003042624] Chr9:105748078 [GRCh38]
Chr9:108510359 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.788C>T (p.Pro263Leu) single nucleotide variant not provided [RCV002942083] Chr9:105773992 [GRCh38]
Chr9:108536273 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV002716083] Chr9:105694662 [GRCh38]
Chr9:108456943 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.237C>A (p.Asn79Lys) single nucleotide variant not provided [RCV003027515] Chr9:105705721 [GRCh38]
Chr9:108468002 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.652G>A (p.Ala218Thr) single nucleotide variant not provided [RCV002834159] Chr9:105748182 [GRCh38]
Chr9:108510463 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.169C>T (p.His57Tyr) single nucleotide variant Inborn genetic diseases [RCV002855660] Chr9:105705653 [GRCh38]
Chr9:108467934 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.689C>G (p.Thr230Ser) single nucleotide variant not provided [RCV002635675] Chr9:105773893 [GRCh38]
Chr9:108536174 [GRCh37]
Chr9:9q31.2		 uncertain significance
NC_000009.11:g.(108484903_108510353)_(108538893_?)del deletion Osteogenesis imperfecta [RCV003155762] Chr9:108510353..108538893 [GRCh37]
Chr9:9q31.2		 likely pathogenic
NM_018112.3(TMEM38B):c.532A>T (p.Lys178Ter) single nucleotide variant Osteogenesis imperfecta [RCV003226831] Chr9:105722611 [GRCh38]
Chr9:108484892 [GRCh37]
Chr9:9q31.2		 likely pathogenic
NM_018112.3(TMEM38B):c.374A>G (p.Lys125Arg) single nucleotide variant Inborn genetic diseases [RCV003216025] Chr9:105721641 [GRCh38]
Chr9:108483922 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.457G>A (p.Ala153Thr) single nucleotide variant Inborn genetic diseases [RCV003309148] Chr9:105722536 [GRCh38]
Chr9:108484817 [GRCh37]
Chr9:9q31.2		 uncertain significance
GRCh38/hg38 9q31.1-31.3(chr9:102995214-108903040)x1 copy number loss Weiss-kruszka syndrome [RCV003327720] Chr9:102995214..108903040 [GRCh38]
Chr9:9q31.1-31.3		 pathogenic
NM_018112.3(TMEM38B):c.505T>C (p.Trp169Arg) single nucleotide variant Inborn genetic diseases [RCV003371125] Chr9:105722584 [GRCh38]
Chr9:108484865 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.780A>T (p.Ala260=) single nucleotide variant not provided [RCV003570384] Chr9:105773984 [GRCh38]
Chr9:108536265 [GRCh37]
Chr9:9q31.2		 likely benign
GRCh37/hg19 9q31.2(chr9:108382469-108494782)x1 copy number loss not provided [RCV003483074] Chr9:108382469..108494782 [GRCh37]
Chr9:9q31.2		 uncertain significance
Single allele deletion not provided [RCV003448676] Chr9:92679543..109378847 [GRCh37]
Chr9:9q22.2-31.2		 pathogenic
NM_018112.3(TMEM38B):c.712_722del (p.Asp238fs) deletion TMEM38B-related condition [RCV003417001] Chr9:105773911..105773921 [GRCh38]
Chr9:108536192..108536202 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.492G>A (p.Leu164=) single nucleotide variant not provided [RCV003575800] Chr9:105722571 [GRCh38]
Chr9:108484852 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.476C>T (p.Thr159Met) single nucleotide variant not provided [RCV003739704] Chr9:105722555 [GRCh38]
Chr9:108484836 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.331C>T (p.Gln111Ter) single nucleotide variant not provided [RCV003660366] Chr9:105721598 [GRCh38]
Chr9:108483879 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_018112.3(TMEM38B):c.651G>A (p.Val217=) single nucleotide variant not provided [RCV003573663] Chr9:105748181 [GRCh38]
Chr9:108510462 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.253C>T (p.Leu85=) single nucleotide variant not provided [RCV003687321] Chr9:105705737 [GRCh38]
Chr9:108468018 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.477G>A (p.Thr159=) single nucleotide variant not provided [RCV003665280] Chr9:105722556 [GRCh38]
Chr9:108484837 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.732A>G (p.Leu244=) single nucleotide variant not provided [RCV003811518] Chr9:105773936 [GRCh38]
Chr9:108536217 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.660+12A>G single nucleotide variant not provided [RCV003810864] Chr9:105748202 [GRCh38]
Chr9:108510483 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.661-12T>C single nucleotide variant not provided [RCV003699428] Chr9:105773853 [GRCh38]
Chr9:108536134 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.542+2T>G single nucleotide variant not provided [RCV003700775] Chr9:105722623 [GRCh38]
Chr9:108484904 [GRCh37]
Chr9:9q31.2		 likely pathogenic
NM_018112.3(TMEM38B):c.258A>G (p.Ala86=) single nucleotide variant not provided [RCV003733410] Chr9:105705742 [GRCh38]
Chr9:108468023 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.158C>G (p.Thr53Ser) single nucleotide variant not provided [RCV003551833] Chr9:105705642 [GRCh38]
Chr9:108467923 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.270-9C>A single nucleotide variant not provided [RCV003730697] Chr9:105721528 [GRCh38]
Chr9:108483809 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.543-17del deletion not provided [RCV003710580] Chr9:105748053 [GRCh38]
Chr9:108510334 [GRCh37]
Chr9:9q31.2		 benign
NM_018112.3(TMEM38B):c.344C>T (p.Ser115Leu) single nucleotide variant not provided [RCV003737911] Chr9:105721611 [GRCh38]
Chr9:108483892 [GRCh37]
Chr9:9q31.2		 uncertain significance
GRCh37/hg19 9q31.1-31.2(chr9:102606857-109839724)x1 copy number loss not specified [RCV003986787] Chr9:102606857..109839724 [GRCh37]
Chr9:9q31.1-31.2		 pathogenic
GRCh37/hg19 9q31.2(chr9:108443820-108476067)x1 copy number loss not specified [RCV003986815] Chr9:108443820..108476067 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.112+14G>T single nucleotide variant not provided [RCV003568304] Chr9:105694786 [GRCh38]
Chr9:108457067 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.184G>A (p.Gly62Arg) single nucleotide variant not provided [RCV003682771] Chr9:105705668 [GRCh38]
Chr9:108467949 [GRCh37]
Chr9:9q31.2		 uncertain significance
NM_018112.3(TMEM38B):c.408T>G (p.Tyr136Ter) single nucleotide variant not provided [RCV003551574] Chr9:105721675 [GRCh38]
Chr9:108483956 [GRCh37]
Chr9:9q31.2		 pathogenic
NM_018112.3(TMEM38B):c.495A>T (p.Val165=) single nucleotide variant not provided [RCV003707554] Chr9:105722574 [GRCh38]
Chr9:108484855 [GRCh37]
Chr9:9q31.2		 likely benign
NM_018112.3(TMEM38B):c.15G>A (p.Trp5Ter) single nucleotide variant not provided [RCV003846773] Chr9:105694675 [GRCh38]
Chr9:108456956 [GRCh37]
Chr9:9q31.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1939
Count of miRNA genes:678
Interacting mature miRNAs:774
Transcripts:ENST00000374688, ENST00000374692, ENST00000434214, ENST00000435034, ENST00000451560
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
D9S2107  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379108,478,527 - 108,478,707UniSTSGRCh37
Build 369107,518,348 - 107,518,528RGDNCBI36
Celera978,983,668 - 78,983,848RGD
Cytogenetic Map9q31.2UniSTS
HuRef978,080,052 - 78,080,242UniSTS
D1S2514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37136,442 - 36,529UniSTSGRCh37
GRCh37124,293,106 - 24,293,193UniSTSGRCh37
Build 36124,165,693 - 24,165,780RGDNCBI36
Celera122,623,813 - 22,623,900RGD
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map9q31.2UniSTS
HuRef978,072,970 - 78,073,058UniSTS
HuRef122,546,445 - 22,546,532UniSTS
HuRef978,072,972 - 78,073,058UniSTS
GeneMap99-GB4 RH Map183.6UniSTS
NCBI RH Map1124.2UniSTS


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 pharyngeal arch
High
Medium 221 988 709 110 544 110 1977 1014 312 243 665 710 11 283 1461 2
Low 2216 1747 1016 513 1161 353 2379 1172 3411 174 788 902 163 1 921 1327 4 2
Below cutoff 256 1 1 246 2 11 9 2 6 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK001355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL592437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL592488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL627247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU728078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX112234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000374688   ⟹   ENSP00000363820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9105,700,984 - 105,776,612 (+)Ensembl
RefSeq Acc Id: ENST00000374692   ⟹   ENSP00000363824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9105,694,541 - 105,776,629 (+)Ensembl
RefSeq Acc Id: ENST00000434214   ⟹   ENSP00000403026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9105,694,544 - 105,705,753 (+)Ensembl
RefSeq Acc Id: ENST00000435034   ⟹   ENSP00000410800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9105,705,675 - 105,774,079 (+)Ensembl
RefSeq Acc Id: ENST00000451560   ⟹   ENSP00000416680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9105,721,687 - 105,749,282 (+)Ensembl
RefSeq Acc Id: NM_018112   ⟹   NP_060582
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389105,694,541 - 105,776,629 (+)NCBI
GRCh379108,456,806 - 108,538,892 (+)NCBI
Build 369107,496,646 - 107,577,265 (+)NCBI Archive
Celera978,961,966 - 79,042,583 (+)RGD
HuRef978,058,333 - 78,140,432 (+)NCBI
CHM1_19108,603,836 - 108,685,928 (+)NCBI
T2T-CHM13v2.09117,869,221 - 117,951,308 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005252075   ⟹   XP_005252132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389105,700,958 - 105,776,629 (+)NCBI
GRCh379108,456,806 - 108,538,892 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518831   ⟹   XP_011517133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389105,694,541 - 105,749,111 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518832   ⟹   XP_011517134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389105,694,541 - 105,776,629 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054363214   ⟹   XP_054219189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09117,869,221 - 117,923,790 (+)NCBI
RefSeq Acc Id: XM_054363215   ⟹   XP_054219190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09117,869,221 - 117,951,308 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_060582   ⟸   NM_018112
- UniProtKB: Q5VTE2 (UniProtKB/Swiss-Prot),   Q5SVN6 (UniProtKB/Swiss-Prot),   Q5SVN5 (UniProtKB/Swiss-Prot),   Q5JR63 (UniProtKB/Swiss-Prot),   Q6IA97 (UniProtKB/Swiss-Prot),   Q9NVV0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005252132   ⟸   XM_005252075
- Peptide Label: isoform X1
- UniProtKB: A0A0A0MRS4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011517133   ⟸   XM_011518831
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011517134   ⟸   XM_011518832
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000416680   ⟸   ENST00000451560
RefSeq Acc Id: ENSP00000363820   ⟸   ENST00000374688
RefSeq Acc Id: ENSP00000363824   ⟸   ENST00000374692
RefSeq Acc Id: ENSP00000403026   ⟸   ENST00000434214
RefSeq Acc Id: ENSP00000410800   ⟸   ENST00000435034
RefSeq Acc Id: XP_054219190   ⟸   XM_054363215
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054219189   ⟸   XM_054363214
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NVV0-F1-model_v2 AlphaFold Q9NVV0 1-291 view protein structure

Promoters
RGD ID:7215751
Promoter ID:EPDNEW_H13622
Type:initiation region
Name:TMEM38B_1
Description:transmembrane protein 38B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13621  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389105,694,541 - 105,694,601EPDNEW
RGD ID:6807485
Promoter ID:HG_KWN:64399
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000374689,   OTTHUMT00000053517,   OTTHUMT00000053521,   UC010MTN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369107,496,441 - 107,496,941 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25535 AgrOrtholog
COSMIC TMEM38B COSMIC
Ensembl Genes ENSG00000095209 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000374688 ENTREZGENE
  ENST00000374688.5 UniProtKB/TrEMBL
  ENST00000374692 ENTREZGENE
  ENST00000374692.8 UniProtKB/Swiss-Prot
  ENST00000434214.1 UniProtKB/TrEMBL
  ENST00000435034.5 UniProtKB/TrEMBL
  ENST00000451560.1 UniProtKB/TrEMBL
GTEx ENSG00000095209 GTEx
HGNC ID HGNC:25535 ENTREZGENE
Human Proteome Map TMEM38B Human Proteome Map
InterPro TRIC_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55151 UniProtKB/Swiss-Prot
NCBI Gene 55151 ENTREZGENE
OMIM 611236 OMIM
PANTHER PTHR12454 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRIMERIC INTRACELLULAR CATION CHANNEL TYPE B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TRIC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134916126 PharmGKB
UniProt A0A0A0MRS4 ENTREZGENE, UniProtKB/TrEMBL
  H7C3B3_HUMAN UniProtKB/TrEMBL
  H7C4C1_HUMAN UniProtKB/TrEMBL
  Q5JR63 ENTREZGENE
  Q5SVN5 ENTREZGENE
  Q5SVN6 ENTREZGENE
  Q5VTE2 ENTREZGENE
  Q6IA97 ENTREZGENE
  Q9NVV0 ENTREZGENE, UniProtKB/Swiss-Prot
  X6RGH1_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q5JR63 UniProtKB/Swiss-Prot
  Q5SVN5 UniProtKB/Swiss-Prot
  Q5SVN6 UniProtKB/Swiss-Prot
  Q5VTE2 UniProtKB/Swiss-Prot
  Q6IA97 UniProtKB/Swiss-Prot