FAM124B (family with sequence similarity 124 member B) - Rat Genome Database

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Gene: FAM124B (family with sequence similarity 124 member B) Homo sapiens
Analyze
Symbol: FAM124B
Name: family with sequence similarity 124 member B
RGD ID: 1602681
HGNC Page HGNC:26224
Description: Located in mitochondrion and nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: family with sequence similarity 124B; FLJ22746; hypothetical protein LOC79843
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382224,378,698 - 224,402,107 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2224,378,698 - 224,402,107 (-)EnsemblGRCh38hg38GRCh38
GRCh372225,243,415 - 225,266,824 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362224,951,659 - 224,974,955 (-)NCBINCBI36Build 36hg18NCBI36
Celera2219,009,190 - 219,032,486 (-)NCBICelera
Cytogenetic Map2q36.2NCBI
HuRef2217,095,545 - 217,119,523 (-)NCBIHuRef
CHM1_12225,250,082 - 225,273,370 (-)NCBICHM1_1
T2T-CHM13v2.02224,861,847 - 224,885,253 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component
mitochondrion  (IDA)
nucleoplasm  (IBA,IDA)
nucleus  (IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:16189514   PMID:17207965   PMID:19060904   PMID:19447967   PMID:21873635   PMID:23285124   PMID:25416956   PMID:29348145   PMID:32296183   PMID:33961781  


Genomics

Comparative Map Data
FAM124B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382224,378,698 - 224,402,107 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2224,378,698 - 224,402,107 (-)EnsemblGRCh38hg38GRCh38
GRCh372225,243,415 - 225,266,824 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362224,951,659 - 224,974,955 (-)NCBINCBI36Build 36hg18NCBI36
Celera2219,009,190 - 219,032,486 (-)NCBICelera
Cytogenetic Map2q36.2NCBI
HuRef2217,095,545 - 217,119,523 (-)NCBIHuRef
CHM1_12225,250,082 - 225,273,370 (-)NCBICHM1_1
T2T-CHM13v2.02224,861,847 - 224,885,253 (-)NCBIT2T-CHM13v2.0
Fam124b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39180,176,416 - 80,192,050 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl180,176,423 - 80,196,190 (-)EnsemblGRCm39 Ensembl
GRCm38180,198,699 - 80,214,205 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl180,198,706 - 80,218,473 (-)EnsemblGRCm38mm10GRCm38
MGSCv37180,195,274 - 80,210,519 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36180,077,730 - 80,092,968 (-)NCBIMGSCv36mm8
MGSCv36181,068,921 - 81,084,159 (-)NCBIMGSCv36mm8
Cytogenetic Map1C5NCBI
cM Map141.19NCBI
Fam124b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8988,961,377 - 88,981,976 (-)NCBIGRCr8
mRatBN7.2981,513,018 - 81,533,621 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl981,515,399 - 81,533,341 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx989,942,959 - 89,963,576 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0995,071,852 - 95,092,466 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0993,454,372 - 93,474,989 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0985,967,784 - 85,986,283 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl985,968,059 - 85,986,208 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl990,787,787 - 90,806,126 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0990,528,050 - 90,546,943 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0985,717,672 - 85,736,427 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4979,496,861 - 79,542,840 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera978,993,260 - 79,011,898 (-)NCBICelera
Cytogenetic Map9q34NCBI
Fam124b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554539,675,179 - 9,696,022 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554539,675,671 - 9,698,266 (+)NCBIChiLan1.0ChiLan1.0
FAM124B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213126,993,929 - 127,017,409 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B127,008,898 - 127,032,380 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B111,620,077 - 111,643,489 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B230,194,747 - 230,218,064 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B230,194,747 - 230,218,518 (-)Ensemblpanpan1.1panPan2
FAM124B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12537,657,369 - 37,677,682 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2538,262,444 - 38,284,810 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02537,893,534 - 37,912,140 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2537,893,687 - 37,911,890 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12537,834,431 - 37,853,077 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02537,675,048 - 37,693,673 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02537,849,765 - 37,868,388 (-)NCBIUU_Cfam_GSD_1.0
Fam124b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303179,638,605 - 179,661,228 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365695,981,558 - 6,003,968 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365695,981,532 - 6,003,977 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAM124B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15126,112,448 - 126,127,547 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115126,112,445 - 126,127,658 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215139,543,747 - 139,557,613 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FAM124B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110110,328,049 - 110,355,647 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10110,325,884 - 110,351,541 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604089,062,566 - 89,086,414 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fam124b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624823916,380 - 937,979 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624823916,144 - 937,952 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FAM124B
21 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1 copy number loss See cases [RCV000052634] Chr2:219081620..225430308 [GRCh38]
Chr2:219946342..226295024 [GRCh37]
Chr2:219654586..226003268 [NCBI36]
Chr2:2q35-36.3		 pathogenic
GRCh38/hg38 2q36.1-36.2(chr2:221387419-224669350)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052635]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052635]|See cases [RCV000052635] Chr2:221387419..224669350 [GRCh38]
Chr2:222252139..225534067 [GRCh37]
Chr2:221960383..225242311 [NCBI36]
Chr2:2q36.1-36.2		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3		 pathogenic
GRCh38/hg38 2q35-36.3(chr2:219547204-228287942)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|See cases [RCV000052965] Chr2:219547204..228287942 [GRCh38]
Chr2:220411926..229152658 [GRCh37]
Chr2:220120170..228860902 [NCBI36]
Chr2:2q35-36.3		 pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3		 pathogenic
GRCh38/hg38 2q36.1-36.2(chr2:221663502-224426183)x1 copy number loss See cases [RCV000135355] Chr2:221663502..224426183 [GRCh38]
Chr2:222528222..225290900 [GRCh37]
Chr2:222236466..224999144 [NCBI36]
Chr2:2q36.1-36.2		 pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 copy number loss not provided [RCV000585275] Chr2:217374144..227643620 [GRCh37]
Chr2:2q35-36.3		 likely pathogenic
NM_001122779.2(FAM124B):c.196G>A (p.Gly66Arg) single nucleotide variant not specified [RCV004319929] Chr2:224401573 [GRCh38]
Chr2:225266290 [GRCh37]
Chr2:2q36.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 copy number gain See cases [RCV000448049] Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)x1 copy number loss See cases [RCV000448773] Chr2:223378640..232061074 [GRCh37]
Chr2:2q36.1-37.1		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3 copy number gain See cases [RCV000511816] Chr2:222077224..239394441 [GRCh37]
Chr2:2q36.1-37.3		 pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001122779.2(FAM124B):c.523G>A (p.Val175Met) single nucleotide variant not specified [RCV004299718] Chr2:224401246 [GRCh38]
Chr2:225265963 [GRCh37]
Chr2:2q36.2		 uncertain significance
NM_001122779.2(FAM124B):c.881C>A (p.Ser294Tyr) single nucleotide variant not specified [RCV004296592] Chr2:224380060 [GRCh38]
Chr2:225244777 [GRCh37]
Chr2:2q36.2		 uncertain significance
GRCh37/hg19 2q35-36.3(chr2:221439250-226170404)x1 copy number loss not provided [RCV000682155] Chr2:221439250..226170404 [GRCh37]
Chr2:2q35-36.3		 pathogenic
GRCh37/hg19 2q35-36.2(chr2:220614743-225587770)x1 copy number loss not provided [RCV000682158] Chr2:220614743..225587770 [GRCh37]
Chr2:2q35-36.2		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1 copy number loss not provided [RCV000682163] Chr2:218813434..227450699 [GRCh37]
Chr2:2q35-36.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
NM_001122779.2(FAM124B):c.1312C>T (p.His438Tyr) single nucleotide variant not specified [RCV004319268] Chr2:224379629 [GRCh38]
Chr2:225244346 [GRCh37]
Chr2:2q36.2		 uncertain significance
GRCh37/hg19 2q36.1-36.3(chr2:225053410-227018472)x1 copy number loss not provided [RCV000845760] Chr2:225053410..227018472 [GRCh37]
Chr2:2q36.1-36.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1 copy number loss not provided [RCV001537914] Chr2:220056891..227164817 [GRCh37]
Chr2:2q35-36.3		 pathogenic
GRCh37/hg19 2q36.1-36.2(chr2:222902251-226084516) copy number loss Waardenburg syndrome type 1 [RCV002280673] Chr2:222902251..226084516 [GRCh37]
Chr2:2q36.1-36.2		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) copy number loss not specified [RCV002053285] Chr2:219606537..239217703 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074) copy number loss not specified [RCV002053287] Chr2:223378640..232061074 [GRCh37]
Chr2:2q36.1-37.1		 pathogenic
NC_000002.11:g.(?_224623432)_(225449726_?)dup duplication not provided [RCV001962369] Chr2:224623432..225449726 [GRCh37]
Chr2:2q36.1-36.2		 uncertain significance
NM_001122779.2(FAM124B):c.188G>C (p.Arg63Pro) single nucleotide variant not specified [RCV004115394] Chr2:224401581 [GRCh38]
Chr2:225266298 [GRCh37]
Chr2:2q36.2		 uncertain significance
NM_001122779.2(FAM124B):c.307C>T (p.Arg103Trp) single nucleotide variant not specified [RCV004231176] Chr2:224401462 [GRCh38]
Chr2:225266179 [GRCh37]
Chr2:2q36.2		 likely benign
NM_001122779.2(FAM124B):c.1127A>G (p.Gln376Arg) single nucleotide variant not specified [RCV004247004] Chr2:224379814 [GRCh38]
Chr2:225244531 [GRCh37]
Chr2:2q36.2		 uncertain significance
NM_001122779.2(FAM124B):c.293C>T (p.Pro98Leu) single nucleotide variant not specified [RCV004093991] Chr2:224401476 [GRCh38]
Chr2:225266193 [GRCh37]
Chr2:2q36.2		 uncertain significance
NM_001122779.2(FAM124B):c.446A>C (p.Tyr149Ser) single nucleotide variant not specified [RCV004191758] Chr2:224401323 [GRCh38]
Chr2:225266040 [GRCh37]
Chr2:2q36.2		 uncertain significance
NM_001122779.2(FAM124B):c.202T>C (p.Ser68Pro) single nucleotide variant not specified [RCV004165719] Chr2:224401567 [GRCh38]
Chr2:225266284 [GRCh37]
Chr2:2q36.2		 uncertain significance
NM_001122779.2(FAM124B):c.23T>C (p.Leu8Pro) single nucleotide variant not specified [RCV004103013] Chr2:224401746 [GRCh38]
Chr2:225266463 [GRCh37]
Chr2:2q36.2		 uncertain significance
NM_001122779.2(FAM124B):c.1303T>C (p.Cys435Arg) single nucleotide variant not specified [RCV004166990] Chr2:224379638 [GRCh38]
Chr2:225244355 [GRCh37]
Chr2:2q36.2		 uncertain significance
NM_001122779.2(FAM124B):c.503A>G (p.Lys168Arg) single nucleotide variant not specified [RCV004131504] Chr2:224401266 [GRCh38]
Chr2:225265983 [GRCh37]
Chr2:2q36.2		 uncertain significance
NM_001122779.2(FAM124B):c.1114T>G (p.Ser372Ala) single nucleotide variant not specified [RCV004269530] Chr2:224379827 [GRCh38]
Chr2:225244544 [GRCh37]
Chr2:2q36.2		 uncertain significance
NM_001122779.2(FAM124B):c.814G>A (p.Val272Ile) single nucleotide variant not specified [RCV004261734] Chr2:224380127 [GRCh38]
Chr2:225244844 [GRCh37]
Chr2:2q36.2		 likely benign
NM_001122779.2(FAM124B):c.333T>G (p.Phe111Leu) single nucleotide variant not specified [RCV004252362] Chr2:224401436 [GRCh38]
Chr2:225266153 [GRCh37]
Chr2:2q36.2		 likely benign
NM_001122779.2(FAM124B):c.416G>A (p.Arg139Lys) single nucleotide variant not specified [RCV004277556] Chr2:224401353 [GRCh38]
Chr2:225266070 [GRCh37]
Chr2:2q36.2		 uncertain significance
NM_001122779.2(FAM124B):c.107G>A (p.Cys36Tyr) single nucleotide variant not specified [RCV004290289] Chr2:224401662 [GRCh38]
Chr2:225266379 [GRCh37]
Chr2:2q36.2		 uncertain significance
NM_001122779.2(FAM124B):c.681C>G (p.Ser227Arg) single nucleotide variant not specified [RCV004335679] Chr2:224401088 [GRCh38]
Chr2:225265805 [GRCh37]
Chr2:2q36.2		 uncertain significance
NM_001122779.2(FAM124B):c.278C>T (p.Pro93Leu) single nucleotide variant not specified [RCV004359714] Chr2:224401491 [GRCh38]
Chr2:225266208 [GRCh37]
Chr2:2q36.2		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3 copy number gain See cases [RCV004442836] Chr2:216815496..242782258 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_001122779.2(FAM124B):c.311G>A (p.Gly104Glu) single nucleotide variant not specified [RCV004378627] Chr2:224401458 [GRCh38]
Chr2:225266175 [GRCh37]
Chr2:2q36.2		 uncertain significance
NM_001122779.2(FAM124B):c.469G>C (p.Glu157Gln) single nucleotide variant not specified [RCV004378629] Chr2:224401300 [GRCh38]
Chr2:225266017 [GRCh37]
Chr2:2q36.2		 uncertain significance
NM_001122779.2(FAM124B):c.910C>T (p.Pro304Ser) single nucleotide variant not specified [RCV004378630] Chr2:224380031 [GRCh38]
Chr2:225244748 [GRCh37]
Chr2:2q36.2		 uncertain significance
NM_001122779.2(FAM124B):c.185C>A (p.Ser62Tyr) single nucleotide variant not specified [RCV004378626] Chr2:224401584 [GRCh38]
Chr2:225266301 [GRCh37]
Chr2:2q36.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1173
Count of miRNA genes:644
Interacting mature miRNAs:718
Transcripts:ENST00000243806, ENST00000389874, ENST00000409685
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 8 23 104 2 6 9 6 110 9 1
Low 1740 1645 1015 373 524 240 3587 1606 1836 205 717 1295 134 1083 2224 1
Below cutoff 586 1313 682 233 1053 206 607 557 1823 171 646 130 31 11 552 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000243806   ⟹   ENSP00000243806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,399,525 - 224,402,085 (-)Ensembl
RefSeq Acc Id: ENST00000389874   ⟹   ENSP00000374524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,378,698 - 224,401,994 (-)Ensembl
RefSeq Acc Id: ENST00000409685   ⟹   ENSP00000386895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,378,698 - 224,402,107 (-)Ensembl
RefSeq Acc Id: NM_001122779   ⟹   NP_001116251
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,378,698 - 224,402,107 (-)NCBI
GRCh372225,243,415 - 225,266,711 (-)RGD
Celera2219,009,190 - 219,032,486 (-)RGD
HuRef2217,095,545 - 217,119,523 (-)ENTREZGENE
CHM1_12225,250,082 - 225,273,370 (-)NCBI
T2T-CHM13v2.02224,861,847 - 224,885,253 (-)NCBI
Sequence:
RefSeq Acc Id: NM_024785   ⟹   NP_079061
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,378,698 - 224,402,107 (-)NCBI
GRCh372225,243,415 - 225,266,711 (-)RGD
Build 362224,951,659 - 224,974,955 (-)NCBI Archive
Celera2219,009,190 - 219,032,486 (-)RGD
HuRef2217,095,545 - 217,119,523 (-)ENTREZGENE
CHM1_12225,250,082 - 225,273,370 (-)NCBI
T2T-CHM13v2.02224,861,847 - 224,885,253 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047445888   ⟹   XP_047301844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,400,377 - 224,402,107 (-)NCBI
RefSeq Acc Id: XM_054343994   ⟹   XP_054199969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02224,883,523 - 224,885,253 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001116251   ⟸   NM_001122779
- Peptide Label: isoform a
- UniProtKB: Q8NBZ4 (UniProtKB/Swiss-Prot),   A6NNC7 (UniProtKB/Swiss-Prot),   Q8TAV7 (UniProtKB/Swiss-Prot),   Q9H5Z6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_079061   ⟸   NM_024785
- Peptide Label: isoform b
- UniProtKB: Q9H5Z6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000374524   ⟸   ENST00000389874
RefSeq Acc Id: ENSP00000243806   ⟸   ENST00000243806
RefSeq Acc Id: ENSP00000386895   ⟸   ENST00000409685
RefSeq Acc Id: XP_047301844   ⟸   XM_047445888
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054199969   ⟸   XM_054343994
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H5Z6-F1-model_v2 AlphaFold Q9H5Z6 1-455 view protein structure

Promoters
RGD ID:6862968
Promoter ID:EPDNEW_H4649
Type:initiation region
Name:FAM124B_1
Description:family with sequence similarity 124 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4650  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,402,107 - 224,402,167EPDNEW
RGD ID:6797455
Promoter ID:HG_KWN:37495
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000409685,   NM_024785
Position:
Human AssemblyChrPosition (strand)Source
Build 362224,974,696 - 224,975,196 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26224 AgrOrtholog
COSMIC FAM124B COSMIC
Ensembl Genes ENSG00000124019 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000243806 ENTREZGENE
  ENST00000243806.2 UniProtKB/Swiss-Prot
  ENST00000389874 ENTREZGENE
  ENST00000389874.3 UniProtKB/Swiss-Prot
  ENST00000409685 ENTREZGENE
  ENST00000409685.4 UniProtKB/Swiss-Prot
GTEx ENSG00000124019 GTEx
HGNC ID HGNC:26224 ENTREZGENE
Human Proteome Map FAM124B Human Proteome Map
InterPro FAM124 UniProtKB/Swiss-Prot
  FAM124_dom UniProtKB/Swiss-Prot
KEGG Report hsa:79843 UniProtKB/Swiss-Prot
NCBI Gene 79843 ENTREZGENE
OMIM 618403 OMIM
PANTHER PROTEIN FAM124B UniProtKB/Swiss-Prot
  PTHR14715 UniProtKB/Swiss-Prot
Pfam FAM124 UniProtKB/Swiss-Prot
PharmGKB PA162385815 PharmGKB
UniProt A6NNC7 ENTREZGENE
  F124B_HUMAN UniProtKB/Swiss-Prot
  Q8NBZ4 ENTREZGENE
  Q8TAV7 ENTREZGENE
  Q9H5Z6 ENTREZGENE
UniProt Secondary A6NNC7 UniProtKB/Swiss-Prot
  Q8NBZ4 UniProtKB/Swiss-Prot
  Q8TAV7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-10 FAM124B  family with sequence similarity 124 member B    family with sequence similarity 124B  Symbol and/or name change 5135510 APPROVED