AutismKB 2.0

Annotation Detail for FAM129B


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Basic Information Top
Gene Symbol:FAM129B ( C9orf88,DKFZP434H0820,FLJ13518,FLJ22151,FLJ22298,MEG-3,MINERVA,OC58,bA356B19.6 )
Gene Full Name: family with sequence similarity 129, member B
Band: 9q34.11
Quick LinksEntrez ID:64855; OMIM: NA; Uniprot ID:NIBL1_HUMAN; ENSEMBL ID: ENSG00000136830; HGNC ID: 25282
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body16 / 70761226
blastocyst11 / 62319176
fetus17 / 56401230
neonate3 / 3109796
infant0 / 236200 
juvenile1 / 5555617
adult203 / 1939121104
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma3 / 17475171
breast (mammary gland) tumor13 / 94178138
cervical tumor14 / 34366407
chondrosarcoma37 / 82823446
colorectal tumor16 / 114246140
esophageal tumor3 / 17290173
gastrointestinal tumor16 / 119369134
germ cell tumor9 / 26384534
glioma17 / 106883159
head and neck tumor11 / 13630280
kidney tumor11 / 68959159
leukemia3 / 9584231
liver tumor18 / 96359186
lung tumor30 / 103127290
lymphoma1 / 7175513
non-neoplasia9 / 9725092
normal215 / 336030763
ovarian tumor5 / 7668265
pancreatic tumor18 / 104616172
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer39 / 102680379
retinoblastoma0 / 463560 
skin tumor34 / 124949272
soft tissue/muscle tissue tumor17 / 125191135
uterine tumor20 / 90257221
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites8 / 40015199
bladder3 / 29757100
blood6 / 12347848
bone20 / 71655279
bone marrow0 / 488010 
brain35 / 110098931
cervix18 / 48171373
connective tissue13 / 14925587
ear0 / 162120 
embryonic tissue32 / 215722148
esophagus3 / 20209148
eye23 / 211054108
heart4 / 8962644
intestine29 / 234472123
kidney19 / 21177789
larynx2 / 2414582
liver19 / 20774391
lung68 / 336974201
lymph1 / 4427022
lymph node0 / 916100 
mammary gland22 / 153271143
mouth4 / 6705259
muscle3 / 10771527
nerve1 / 1576863
ovary10 / 10205197
pancreas23 / 214812107
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland1 / 1658560
placenta53 / 280825188
prostate48 / 189345253
salivary gland4 / 20155198
skin48 / 210574227
spleen0 / 539520 
stomach7 / 9661972
testis0 / 3304420 
thymus0 / 811310 
thyroid4 / 4747384
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus32 / 232878137
vascular3 / 5178057
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P124097
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala13.43 ± 0.71
Basal Forebrain13.16 ± 0.22
Basal Part of Pons13.46 ± 0.38
Cerebellar Cortex12.71 ± 0.3
Cerebellar Nuclei13.51 ± 0.26
Claustrum13.54 ± 0.48
Epithalamus12.57 ± 0.53
Frontal Lobe13.26 ± 0.54
Globus Pallidus13.75 ± 0.23
Hypothalamus13.01 ± 0.48
Insula13.11 ± 0.55
Limbic Lobe13.28 ± 0.55
Mesencephalon13.29 ± 0.46
Myelencephalon13.25 ± 0.56
Occipital Lobe13.11 ± 0.52
Parietal Lobe13.16 ± 0.51
Pontine Tegmentum13.05 ± 0.42
Striatum13.47 ± 0.54
Subthalamus13.18 ± 0.2
Temporal Lobe13.12 ± 0.58
Thalamus13.32 ± 0.4
White Matter13.38 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
9130404D14RikCBCerebellum12.56
15.9
9130404D14RikCTXCerebral cortex20.32
15.11
9130404D14RikHIPHippocampal region11.73
12.82
9130404D14RikHPFHippocampal formation11.49
11.54
9130404D14RikHYHypothalamus0.88
0.77
9130404D14RikLSXLateral septal complex1.05
1.62
9130404D14RikMBMidbrain3.01
4.7
9130404D14RikMYMedulla3.76
7.19
9130404D14RikOLFOlfactory bulb10.41
11.32
9130404D14RikPPons2.29
3.61
9130404D14RikPALPallidum1.54
1.68
9130404D14RikRHPRetrohippocampal region10.63
9.47
9130404D14RiksAMYStriatum-like amygdalar nuclei1.78
1.63
9130404D14RikSTRStriatum2.59
3.36
9130404D14RikSTRdStriatum dorsal region2.97
4.13
9130404D14RikSTRvStriatum ventral region1.89
1.91
9130404D14RikTHThalamus2.24
2.2
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NIBL1_HUMAN_0 0 0 0 EALLQISIPFLLK PRIDE
NIBL1_HUMAN_0 0 0 0 EALLQISIPFLLKK PRIDE
NIBL1_HUMAN_0 0 0 0 EQMDNAVYTFETLLHQELGKGPTKEELCK PRIDE
NIBL1_HUMAN_0 0 0 0 FDVSSTSVFK PRIDE
NIBL1_HUMAN_0 0 0 0 FQELIFEDFAR PRIDE
NIBL1_HUMAN_0 0 0 0 ILTSVDQYLELIGNSLPGTTAK PRIDE
NIBL1_HUMAN_0 0 0 0 NHVQPYIPSILEALMVPTSQGFTEVR PRIDE
NIBL1_HUMAN_0 0 0 0 QWIQISDAVYHMVYEQAK PRIDE
NIBL1_HUMAN_110 22 110 131 ILTSVDQYLELIGNSLPGTTAK PRIDE
NIBL1_HUMAN_140 15 140 154 CPTQFPLILWHPYAR PRIDE
NIBL1_HUMAN_253 18 253 270 QWIQISDAVYHMVYEQAK PRIDE
NIBL1_HUMAN_280 13 280 292 VQQVQPAMQAVIR PRIDE
NIBL1_HUMAN_281 13 281 293 VQQVQPAMQAVIR PRIDE
NIBL1_HUMAN_293 10 293 302 TDMDQIITSK PRIDE
NIBL1_HUMAN_32 16 32 47 HEIEGTGLPQAQLLWR PRIDE
NIBL1_HUMAN_323 26 323 348 NHVQPYIPSILEALMVPTSQGFTEVR PRIDE
NIBL1_HUMAN_354 27 354 380 EVTDMNLNVINEGGIDKLGEYMEKLSR PRIDE
NIBL1_HUMAN_355 17 355 371 EVTDMNLNVINEGGIDK PRIDE
NIBL1_HUMAN_407 10 407 416 FDVSSTSVFK PRIDE
NIBL1_HUMAN_425 20 425 444 EQMDNAVYTFETLLHQELGK PRIDE
NIBL1_HUMAN_425 29 425 453 EQMDNAVYTFETLLHQELGKGPTKEELCK PRIDE
NIBL1_HUMAN_480 13 480 492 EALLQISIPFLLK PRIDE
NIBL1_HUMAN_480 14 480 493 EALLQISIPFLLKK PRIDE
NIBL1_HUMAN_505 11 505 515 FQELIFEDFAR PRIDE
NIBL1_HUMAN_506 11 506 516 FQELIFEDFAR PRIDE
NIBL1_HUMAN_672 20 672 691 AAPEASSPPASPLQHLLPGK PRIDE
NIBL1_HUMAN_75 16 75 90 FSLVPHNYGLVLYENK PRIDE
PAp00009621 15 154 168 CPTQFPLILWHPYAR Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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